D33G (p.Asp33Gly) variant of ABCG8 (Q9H221)
D33G (p.Asp33Gly) 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 0.71 / 1. The record also includes population frequency data and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99699
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available