G49D (p.Gly49Asp) variant of KRT2 (P35908)
G49D (p.Gly49Asp) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- ExAC rs753778046
- TOPMed rs753778046
- gnomAD rs753778046
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.42
- CADD 17.20
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available