L30V (p.Leu30Val) variant of IDH1 (O75874)
L30V (p.Leu30Val) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD rs1478965604
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.84
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available