I31V (p.Ile31Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
I31V (p.Ile31Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- TOPMed rs944892887
- gnomAD rs944892887
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.11
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available