F8L (p.Phe8Leu) variant of KRT17 (Keratin, type I cytoskeletal 17)
F8L (p.Phe8Leu) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- gnomAD rs1908662186
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available