K70E (p.Lys70Glu) variant of KRT2 (P35908)
K70E (p.Lys70Glu) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- gnomAD rs1168689867
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available