V51L (p.Val51Leu) variant of IDH2 (P48735)
V51L (p.Val51Leu) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V51L (p.Val51Leu) variant details
- p.Val51Leu
- gnomAD rs1901038186
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.76
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available