G45S (p.Gly45Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
G45S (p.Gly45Ser) 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.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- gnomAD rs1360738407
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available