P43L (p.Pro43Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
P43L (p.Pro43Leu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- gnomAD rs1302148281
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available