TRPV6 p.Val481=
c.1443G>A · VCV4898263
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00668%, afr)
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 0.97 | GERP -3.8, phastCons 1 |
| Overall | ||
| CADD | 8.127 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
African / African-American · 5/74,900 alleles
Filtering AF
0.00255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00162%
Overall
0.00031%
5/1,613,962 alleles · very rare
exomes 3/1,461,796 · genomes 2/152,166 · 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
- TRPV6
- Protein
- p.Val481=
- Coding
- c.1443G>A
- MANE Select
- NM_018646
- Type
- single nucleotide variant
- Location
- chr7:142874620 (GRCh38)
- Gene constraint
- LOEUF 0.638 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.76 · 25 PDB
- Residue 481
- an α-helix
Similar variants
- TRPV6 p.Val481Met Uncertain significance ★ ⚠ same residue
- TRPV6 p.Gly451Glu Pathogenic/Likely pathogenic ★★ same type
- TRPV6 p.Ala122Val Uncertain significance ★★ ⚠ same type
- TRPV6 p.Arg220Trp Uncertain significance ★★ ⚠ same type
- TRPV6 p.Arg230Gln Uncertain significance ★★ ⚠ same type
- TRPV6 p.Arg342Trp Uncertain significance ★★ ⚠ same type
- TRPV6 p.Arg454Cys Uncertain significance ★★ ⚠ same type
- TRPV6 p.Arg646Gln Uncertain significance ★★ ⚠ same type
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/trpv6-p-val481 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown