Y42H (p.Tyr42His) variant of IDH1 (O75874)
Y42H (p.Tyr42His) in IDH1 (O75874) is a missense change. 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.
Y42H (p.Tyr42His) variant details
- p.Tyr42His
- Ensembl rs2124864101
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.88
- CADD 29.20
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available