R43S (p.Arg43Ser) variant of IDH2 (P48735)
R43S (p.Arg43Ser) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- TOPMed rs988769536
- gnomAD rs988769536
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available