K13N (p.Lys13Asn) variant of TMC1 (Q8TDI8)
K13N (p.Lys13Asn) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- gnomAD 9-72688731-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available