I22F (p.Ile22Phe) variant of IDH1 (O75874)
I22F (p.Ile22Phe) 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 0.70 / 1. The record also includes population frequency data and structural context.
I22F (p.Ile22Phe) variant details
- p.Ile22Phe
- rs1170747681
- ClinGen CA350103043
- ClinVar RCV004330196
- TOPMed rs1170747681
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.81
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available