P128L (p.Pro128Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
P128L (p.Pro128Leu) in KRT6A (Keratin, type II cytoskeletal 6A) 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.
P128L (p.Pro128Leu) variant details
- p.Pro128Leu
- gnomAD rs1938295486
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.42
- CADD 23.70
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available