G7S (p.Gly7Ser) variant of IDH1 (O75874)
G7S (p.Gly7Ser) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- Ensembl rs2124868405
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.29
- SIFT 0.15
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available