R37S (p.Arg37Ser) variant of IDH2 (P48735)
R37S (p.Arg37Ser) in IDH2 (P48735) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- Ensembl rs1567261734
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available