D43A (p.Asp43Ala) variant of IDH1 (O75874)
D43A (p.Asp43Ala) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D43A (p.Asp43Ala) variant details
- p.Asp43Ala
- ExAC rs777761062
- gnomAD rs777761062
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.90
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available