G8S (p.Gly8Ser) variant of IDH1 (O75874)
G8S (p.Gly8Ser) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- rs369048275
- ClinGen CA2079114
- cosmic curated COSV61632
- ClinVar RCV004062614
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available