A103D (p.Ala103Asp) variant of IDH2 (P48735)
A103D (p.Ala103Asp) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A103D (p.Ala103Asp) variant details
- p.Ala103Asp
- gnomAD rs1360419649
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.88
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available