D16V (p.Asp16Val) variant of IDH1 (O75874)
D16V (p.Asp16Val) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- Ensembl rs2124868285
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available