R67T (p.Arg67Thr) variant of TMC1 (Q8TDI8)
R67T (p.Arg67Thr) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R67T (p.Arg67Thr) variant details
- p.Arg67Thr
- gnomAD rs1415801221
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available