L72R (p.Leu72Arg) variant of IDH2 (P48735)
L72R (p.Leu72Arg) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L72R (p.Leu72Arg) variant details
- p.Leu72Arg
- Ensembl rs2151551355
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.53
- CADD 25.20
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available