P12L (p.Pro12Leu) variant of KRT4 (Keratin, type II cytoskeletal 4)
P12L (p.Pro12Leu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1381087134
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.13
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available