G3W (p.Gly3Trp) variant of ABCG8 (Q9H221)
G3W (p.Gly3Trp) in ABCG8 (Q9H221) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- NCI-TCGA Cosmic COSV5321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.59
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available