S22G (p.Ser22Gly) variant of TMC1 (Q8TDI8)
S22G (p.Ser22Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- rs144387828
- ClinGen CA193341223
- ClinVar RCV001964898
- ESP rs144387828
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.48
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available