K65N (p.Lys65Asn) variant of TMC1 (Q8TDI8)
K65N (p.Lys65Asn) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- gnomAD 9-72694673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.02
- ESM-1b 0.27
- AlphaMissense 0.57
- CADD 19.00
- PolyPhen-2 0.19
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available