A79E (p.Ala79Glu) variant of TMC1 (Q8TDI8)
A79E (p.Ala79Glu) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A79E (p.Ala79Glu) variant details
- p.Ala79Glu
- rs140482278
- ClinGen CA5081623
- ClinVar RCV002248272
- ESP rs140482278
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available