S109G (p.Ser109Gly) variant of KRT2 (P35908)
S109G (p.Ser109Gly) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S109G (p.Ser109Gly) variant details
- p.Ser109Gly
- TOPMed rs1397483757
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.06
- CADD 9.22
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available