F18L (p.Phe18Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
F18L (p.Phe18Leu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- gnomAD rs1456998109
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available