Is FKBP14 p.Tyr55= (c.165C>T) pathogenic?

FKBP14 p.Tyr55= (c.165C>T) is classified Benign in FKBP14 (ClinVar, Multiple submitters, 8 submitters; last evaluated 2026-02-04). Common (popmax 5.4%, amr) — too common for a highly-penetrant pathogenic allele; Associated with Cardiovascular phenotype.

What condition is associated with FKBP14 p.Tyr55= (c.165C>T)?

FKBP14 p.Tyr55= (c.165C>T) is associated with Cardiovascular phenotype, Ehlers-Danlos syndrome, kyphoscoliotic type, 2, Ehlers-Danlos syndrome (ClinVar).

FKBP14 p.Tyr55=

Q: How common is FKBP14 p.Tyr55= (c.165C>T) in the general population?

FKBP14 p.Tyr55= (c.165C>T) is common (popmax 5.4%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.165C>T · rs17150692 · VCV384694

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Common

common (popmax 5.4%, amr) — too common for a highly-penetrant pathogenic allele

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.5	GERP 0.55, phastCons 1
Overall
CADD	17.42	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 5.4% Admixed American · 3,230/59,776 alleles

Filtering AF 5.25% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.18%

Overall 1.86% 29,968/1,612,990 alleles · common exomes 27,013/1,460,690 · genomes 2,955/152,300 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	5.4%	19
East Asian	4.4%	23
Ashkenazi Jewishnot grpmax-eligible	3.96%	25
Middle Eastern	2.54%	39
South Asian	2.07%	48
Remaining individualsnot grpmax-eligible	2.07%	48
African / African-American	1.95%	51
European (non-Finnish)	1.58%	63
Finnishnot grpmax-eligible	0.197%	508

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: FKBP14
Protein: p.Tyr55=
Coding: c.165C>T
MANE Select: NM_017946
dbSNP: rs17150692
Type: single nucleotide variant
Location: chr7:30026344 (GRCh38)
Gene constraint: LOEUF 1.342 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 88.27 · 2 PDB
Residue 55: the ppiase fkbp-type domain; a β-strand

Full FKBP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 Ehlers-Danlos syndrome

Similar variants

FKBP14 p.Tyr55Cys Uncertain significance ★ ⚠ same residue
FKBP14 p.Ser143Ter Pathogenic/Likely pathogenic ★★ same condition
FKBP14 c.198-3T>C Uncertain significance ★★ same condition
FKBP14 p.Arg135Gln Uncertain significance ★★ ⚠ same condition
FKBP14 p.Arg2Ser Uncertain significance ★★ ⚠ same condition
FKBP14 p.Asp181Glu Uncertain significance ★★ ⚠ same condition
FKBP14 p.Asp46Gly Uncertain significance ★★ ⚠ same condition
FKBP14 p.Asp46Tyr Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/fkbp14-p-tyr55 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown