P23S (p.Pro23Ser) variant of IDH2 (P48735)
P23S (p.Pro23Ser) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs1433340280
- ClinGen CA393803606
- ClinVar RCV002225999
- TOPMed rs1433340280
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.61
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00028)
- Structural context available