V28M (p.Val28Met) variant of KRT2 (P35908)
V28M (p.Val28Met) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- gnomAD rs1352721944
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.25
- CADD 16.70
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available