A40V (p.Ala40Val) variant of IDH2 (P48735)
A40V (p.Ala40Val) in IDH2 (P48735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- NCI-TCGA TCGA novel
- Ensembl rs2151551873
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available