L5P (p.Leu5Pro) variant of IDH2 (P48735)
L5P (p.Leu5Pro) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- ExAC rs766605461
- gnomAD rs766605461
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.54
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5e-05)
- Structural context available