G14C (p.Gly14Cys) variant of ABCG5 (Q9H222)
G14C (p.Gly14Cys) in ABCG5 (Q9H222) 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 0.28 / 1. The record also includes population frequency data and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99575
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 18.90
- PolyPhen-2 0.54
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available