R36L (p.Arg36Leu) variant of IDH2 (P48735)
R36L (p.Arg36Leu) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- ExAC rs780252226
- gnomAD rs780252226
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the South Asian population (allele frequency 8.7e-05)
- Structural context available