A72P (p.Ala72Pro) variant of KRT4 (Keratin, type II cytoskeletal 4)
A72P (p.Ala72Pro) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- ExAC rs770823399
- TOPMed rs770823399
- gnomAD rs770823399
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available