S22C (p.Ser22Cys) variant of TMC1 (Q8TDI8)
S22C (p.Ser22Cys) in TMC1 (Q8TDI8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- ESP rs144387828
- ExAC rs144387828
- gnomAD rs144387828
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available