G52D (p.Gly52Asp) variant of KRT2 (P35908)
G52D (p.Gly52Asp) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- ExAC rs767158226
- gnomAD rs767158226
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available