P49A (p.Pro49Ala) variant of IDH2 (P48735)
P49A (p.Pro49Ala) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of D-2-hydroxyglutaric aciduria 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs1164126819
- ClinGen CA393803077
- ClinVar RCV002462529
- ClinVar RCV003103132
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.42
- MetaLR 0.57
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available