A22P (p.Ala22Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
A22P (p.Ala22Pro) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- TOPMed rs1284370870
- gnomAD rs1284370870
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available