H46Y (p.His46Tyr) variant of KRT2 (P35908)
H46Y (p.His46Tyr) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- gnomAD rs1199795984
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.22
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available