G51E (p.Gly51Glu) variant of KRT2 (P35908)
G51E (p.Gly51Glu) 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.
G51E (p.Gly51Glu) variant details
- p.Gly51Glu
- TOPMed rs1373746740
- gnomAD rs1373746740
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available