H46R (p.His46Arg) variant of KRT2 (P35908)
H46R (p.His46Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- ExAC rs752493825
- TOPMed rs752493825
- gnomAD rs752493825
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available