FRMD7 p.Pro433=
c.1299C>T · rs1043935466 · VCV1151219
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00652%, amr)
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 0.95 | GERP 0.62, phastCons 1 |
| Overall | ||
| CADD | 2.716 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00652%
Admixed American · 3/45,997 alleles
Filtering AF
0.00173%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000879%
Overall
0.00033%
4/1,210,804 alleles · very rare
exomes 4/1,097,218 · genomes 0/113,586 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00652% | 15,332 |
| Remaining individualsnot grpmax-eligible | 0.0021% | 47,606 |
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
- FRMD7
- Protein
- p.Pro433=
- Coding
- c.1299C>T
- MANE Select
- NM_194277
- dbSNP
- rs1043935466
- Type
- single nucleotide variant
- Location
- chrX:132078718 (GRCh38)
- Structure
- AlphaFold pLDDT 62.31
Similar variants
- FRMD7 c.906-2A>G Likely pathogenic ★★ same type
- FRMD7 p.Ala194Thr Pathogenic/Likely pathogenic ★★ same type
- FRMD7 p.Arg261Gln Pathogenic/Likely pathogenic ★★ same type
- FRMD7 p.Arg261Ter Pathogenic ★★ same type
- FRMD7 p.Arg304Ter Pathogenic ★★ same type
- FRMD7 p.Arg335Ter Pathogenic ★★ same type
- FRMD7 p.Gly24Arg Pathogenic ★★ same type
- FRMD7 p.Gly296Arg Pathogenic ★★ 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/frmd7-p-pro433 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown