L5Q (p.Leu5Gln) variant of IDH2 (P48735)
L5Q (p.Leu5Gln) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- ExAC rs766605461
- gnomAD rs766605461
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.52
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available