S44F (p.Ser44Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S44F (p.Ser44Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- ExAC rs775031648
- gnomAD rs775031648
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available