Is FKBP14 p.Leu125= (c.375G>A) pathogenic?

FKBP14 p.Leu125= (c.375G>A) is classified Likely benign in FKBP14 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-07-25). No allele count reported in gnomAD v4.1 (AN 1,581,306); Associated with Cardiovascular phenotype.

What condition is associated with FKBP14 p.Leu125= (c.375G>A)?

FKBP14 p.Leu125= (c.375G>A) is associated with Cardiovascular phenotype (ClinVar).

How common is FKBP14 p.Leu125= (c.375G>A) in the general population?

FKBP14 p.Leu125= (c.375G>A) is no allele count reported in gnomAD v4.1 (AN 1,581,306) (gnomAD).

FKBP14 p.Leu125=

c.375G>A · rs143268242 · VCV1734649

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,581,306)

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 0.55	GERP 2.5, phastCons 1
Overall
CADD	11.92	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,581,306). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: FKBP14
Protein: p.Leu125=
Coding: c.375G>A
MANE Select: NM_017946
dbSNP: rs143268242
Type: single nucleotide variant
Location: chr7:30019098 (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 125: 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

Similar variants

FKBP14 c.198-3T>C Uncertain significance ★★ same condition
FKBP14 p.Arg2Ser Uncertain significance ★★ ⚠ same condition
FKBP14 p.Asp181Glu Uncertain significance ★★ ⚠ same condition
FKBP14 p.Gly197Arg Uncertain significance ★★ ⚠ same condition
FKBP14 p.Gly60Asp Uncertain significance ★★ ⚠ same condition
FKBP14 p.His179Gln Uncertain significance ★★ ⚠ same condition
FKBP14 p.His69Arg Uncertain significance ★★ ⚠ same condition
FKBP14 p.Ile105Thr 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-leu125 (accessed [today's date]).

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