R71G (p.Arg71Gly) variant of TMC1 (Q8TDI8)
R71G (p.Arg71Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R71G (p.Arg71Gly) variant details
- p.Arg71Gly
- cosmic curated COSV99919
- gnomAD rs779134204
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.16
- ESM-1b 0.58
- AlphaMissense 0.60
- CADD 24.30
- PolyPhen-2 0.88
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available