W23C (p.Trp23Cys) variant of IDH1 (O75874)
W23C (p.Trp23Cys) 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 0.85 / 1. The record also includes population frequency data and structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- rs535551892
- 1000Genomes rs535551892
- ExAC rs535551892
- TOPMed rs535551892
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.88
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available