Is FKBP14 p.Glu191del (c.570AGA[1]) pathogenic?

FKBP14 p.Glu191del (c.570AGA[1]) is classified Pathogenic in FKBP14 (ClinVar, No assertion criteria, 2 submitters; last evaluated 2019-01-15). Very rare (popmax 0.00224%, eas); Associated with Ehlers-Danlos syndrome, kyphoscoliotic type, 2.

What condition is associated with FKBP14 p.Glu191del (c.570AGA[1])?

FKBP14 p.Glu191del (c.570AGA[1]) is associated with Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (ClinVar).

How common is FKBP14 p.Glu191del (c.570AGA[1]) in the general population?

FKBP14 p.Glu191del (c.570AGA[1]) is very rare (popmax 0.00224%, eas) (gnomAD).

FKBP14 p.Glu191del

c.570AGA[1] · rs1430849353 · VCV599393

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00224%, eas)

Conditions

Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.9	GERP 0.7, phastCons 1

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00224% East Asian · 1/44,662 alleles

Overall 6.2e-05% 1/1,611,614 alleles · very rare exomes 1/1,459,366 · genomes 0/152,248 · joint denominator

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.Glu191del
Coding: c.570AGA[1]
MANE Select: NM_017946
dbSNP: rs1430849353
Type: Microsatellite
Location: chr7:30014796 (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 191: an α-helix; the ef-hand 2 domain

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

Disease context

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Kyphoscoliotic Ehlers-Danlos syndrome (Orphanet):

Onset: Antenatal, Neonatal

Similar variants

FKBP14 c.197+5_197+8del Likely pathogenic ★ same condition
FKBP14 p.Asn176fs Likely pathogenic ★ same condition
FKBP14 p.Leu12fs Pathogenic ★ same condition
FKBP14 p.Leu32fs Pathogenic ★ same condition
FKBP14 p.Glu191Gln Uncertain significance ★ ⚠ same residue
FKBP14 p.Leu155_Ser156insTer Conflicting classifications of pathogenicity ★ same condition
FKBP14 p.Lys166del Conflicting classifications of pathogenicity ★ same condition
FKBP14 p.Ter212GluextTer? 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-glu191del (accessed [today's date]).

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