G18E (p.Gly18Glu) variant of KRT2 (P35908)
G18E (p.Gly18Glu) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- ExAC rs755477904
- TOPMed rs755477904
- gnomAD rs755477904
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.40
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available