P23A (p.Pro23Ala) variant of IDH2 (P48735)
P23A (p.Pro23Ala) 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 0.29 / 1. The record also includes population frequency data and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- TOPMed rs1433340280
- gnomAD rs1433340280
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- CADD 17.80
- PolyPhen-2 0.35
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available