G3R (p.Gly3Arg) variant of ABCG8 (Q9H221)
G3R (p.Gly3Arg) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs1009122651
- ClinGen CA46426857
- NCI-TCGA Cosmic COSV5321
- cosmic curated COSV53210
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.22
- CADD 16.50
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available