G49S (p.Gly49Ser) variant of KRT2 (P35908)
G49S (p.Gly49Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- ExAC rs754850936
- gnomAD rs754850936
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.32
- CADD 15.00
- PolyPhen-2 0.20
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available