K76R (p.Lys76Arg) variant of TMC1 (Q8TDI8)
K76R (p.Lys76Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K76R (p.Lys76Arg) variant details
- p.Lys76Arg
- ExAC rs778543840
- gnomAD rs778543840
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available