R39K (p.Arg39Lys) variant of TMC1 (Q8TDI8)
R39K (p.Arg39Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R39K (p.Arg39Lys) variant details
- p.Arg39Lys
- gnomAD 9-72694594-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available