S2P (p.Ser2Pro) variant of IDH1 (O75874)
S2P (p.Ser2Pro) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- ExAC rs751591193
- TOPMed rs751591193
- gnomAD rs751591193
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.54
- CADD 25.00
- PolyPhen-2 0.93
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available