L5V (p.Leu5Val) variant of IDH2 (P48735)
L5V (p.Leu5Val) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- TOPMed rs1901360602
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available