FKBP14 p.Leu82Pro
c.245T>C · VCV4257770
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
AlphaMissense
ambiguous
0.399 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| AlphaMissense | 0.399 | ambiguous |
|---|---|---|
| REVEL | 0.504 | indeterminate |
| SaProt | LLR -6.70 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.5, phastCons 1 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 12 kb · p 0.8 · regional, not allelic |
| Overall | ||
| CADD | 22.7 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- FKBP14
- Protein
- p.Leu82Pro
- Coding
- c.245T>C
- MANE Select
- NM_017946
- Type
- single nucleotide variant
- Location
- chr7:30022769 (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 82
- the ppiase fkbp-type domain; a turn
Similar variants
- FKBP14 p.Leu82= Benign/Likely benign ★★ same residue
- 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
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-leu82pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown