K76N (p.Lys76Asn) variant of TMC1 (Q8TDI8)
K76N (p.Lys76Asn) 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.
K76N (p.Lys76Asn) variant details
- p.Lys76Asn
- gnomAD 9-72694706-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 19.70
- PolyPhen-2 0.07
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available