Y42C (p.Tyr42Cys) variant of IDH1 (O75874)
Y42C (p.Tyr42Cys) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- ExAC rs747226100
- TOPMed rs747226100
- gnomAD rs747226100
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.89
- CADD 27.50
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available