FKBP14 p.His180Pro
c.539_540delinsCA · VCV3385315
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 0.075 | GERP -1.9, phastCons 0.06 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 12 kb · p 0.8 · regional, not allelic |
Variant & gene context
- Gene
- FKBP14
- Protein
- p.His180Pro
- Coding
- c.539_540delinsCA
- MANE Select
- NM_017946
- Type
- Indel
- Location
- chr7:30014831 (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 180
- an α-helix; the ef-hand 2 domain
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-his180pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown