S50P (p.Ser50Pro) variant of KRT9 (Keratin, type I cytoskeletal 9)
S50P (p.Ser50Pro) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- ExAC rs770850350
- gnomAD rs770850350
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.41
- CADD 22.90
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available