R34G (p.Arg34Gly) variant of TMC1 (Q8TDI8)
R34G (p.Arg34Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- gnomAD 9-72694578-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 19.30
- PolyPhen-2 0.93
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available