A79V (p.Ala79Val) variant of TMC1 (Q8TDI8)
A79V (p.Ala79Val) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TMC1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- rs140482278
- ClinGen CA5081624
- ClinVar RCV003481916
- ESP rs140482278
- Uncertain significance
- TMC1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.50
- PolyPhen-2 0.75
- SIFT 0.16
- ClinVar: Uncertain significance (TMC1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available