I22V (p.Ile22Val) variant of IDH1 (O75874)
I22V (p.Ile22Val) in IDH1 (O75874) 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 0.58 / 1. The record also includes population frequency data and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- TOPMed rs1170747681
- gnomAD rs1170747681
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.62
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available