I72N (p.Ile72Asn) variant of KRT2 (P35908)
I72N (p.Ile72Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I72N (p.Ile72Asn) variant details
- p.Ile72Asn
- ExAC rs761465850
- TOPMed rs761465850
- gnomAD rs761465850
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available