R71T (p.Arg71Thr) variant of TMC1 (Q8TDI8)
R71T (p.Arg71Thr) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R71T (p.Arg71Thr) variant details
- p.Arg71Thr
- gnomAD rs1360787887
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.16
- ESM-1b 0.66
- AlphaMissense 0.67
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available