G104D (p.Gly104Asp) variant of KRT2 (P35908)
G104D (p.Gly104Asp) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G104D (p.Gly104Asp) variant details
- p.Gly104Asp
- ExAC rs769475292
- gnomAD rs769475292
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.30
- CADD 15.10
- PolyPhen-2 0.66
- SIFT 0.08
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available