A24V (p.Ala24Val) variant of IDH2 (P48735)
A24V (p.Ala24Val) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- ExAC rs777789880
- gnomAD rs777789880
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.13
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 8.8e-05)
- Structural context available