I72T (p.Ile72Thr) variant of KRT2 (P35908)
I72T (p.Ile72Thr) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- ExAC rs761465850
- TOPMed rs761465850
- gnomAD rs761465850
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available