I31V (p.Ile31Val) variant of IDH1 (O75874)
I31V (p.Ile31Val) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- rs1244968146
- ClinGen CA350102897
- ClinVar RCV004055072
- TOPMed rs1244968146
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available