G99D (p.Gly99Asp) variant of KRT2 (P35908)
G99D (p.Gly99Asp) 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.
G99D (p.Gly99Asp) variant details
- p.Gly99Asp
- ExAC rs773313616
- gnomAD rs773313616
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available