K76Q (p.Lys76Gln) variant of TMC1 (Q8TDI8)
K76Q (p.Lys76Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K76Q (p.Lys76Gln) variant details
- p.Lys76Gln
- gnomAD 9-72694704-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available