TRPM5 p.Ala574=
c.1722G>A · rs193163625 · VCV785334
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.14%, 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 1.4 | GERP -2, phastCons 1 |
| Overall | ||
| CADD | 8.077 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.14%
African / African-American · 2,295/73,032 alleles
Filtering AF
3.04%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.99%
Overall
0.169%
2,604/1,543,932 alleles · low-frequency
exomes 1,254/1,391,616 · genomes 1,350/152,316 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.14% | 32 |
| Admixed American | 0.217% | 462 |
| Remaining individualsnot grpmax-eligible | 0.209% | 478 |
| Middle Eastern | 0.111% | 903 |
| South Asian | 0.0214% | 4,663 |
| European (non-Finnish) | 0.00437% | 22,884 |
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
- TRPM5
- Protein
- p.Ala574=
- Coding
- c.1722G>A
- MANE Select
- NM_014555
- dbSNP
- rs193163625
- Type
- single nucleotide variant
- Location
- chr11:2414737 (GRCh38)
- Gene constraint
- LOEUF 1.345 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.66
Similar variants
- TRPM5 p.Ala574Glu Uncertain significance ★ ⚠ same residue
- TRPM5 p.Arg500Gln Likely benign ★★ same type
- TRPM5 p.Cys227= Benign ★★ same type
- TRPM5 p.Gly1136Ser Benign ★★ same type
- TRPM5 p.Pro455= Benign/Likely benign ★★ same type
- TRPM5 p.Thr218= Benign ★★ same type
- TRPM5 p.Thr314= Benign/Likely benign ★★ same type
- TRPM5 p.Thr616= Benign ★★ 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/trpm5-p-ala574 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown