K65R (p.Lys65Arg) variant of TMC1 (Q8TDI8)
K65R (p.Lys65Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- gnomAD 9-72694672-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available