V29L (p.Val29Leu) variant of KRT2 (P35908)
V29L (p.Val29Leu) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ExAC rs770439539
- gnomAD rs770439539
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- CADD 9.11
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available