E62K (p.Glu62Lys) variant of TMC1 (Q8TDI8)
E62K (p.Glu62Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- gnomAD rs1241564328
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available