R71K (p.Arg71Lys) variant of TMC1 (Q8TDI8)
R71K (p.Arg71Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R71K (p.Arg71Lys) variant details
- p.Arg71Lys
- cosmic curated COSV52768
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.10
- PolyPhen-2 0.74
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available