I74V (p.Ile74Val) variant of KRT2 (P35908)
I74V (p.Ile74Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- gnomAD rs1941258978
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.09
- CADD 12.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available