R49H (p.Arg49His) variant of IDH1 (O75874)
R49H (p.Arg49His) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- cosmic curated COSV10610
- ExAC rs765848107
- TOPMed rs765848107
- gnomAD rs765848107
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.55
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available