G10A (p.Gly10Ala) variant of ABCG8 (Q9H221)
G10A (p.Gly10Ala) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- rs1157337875
- ClinGen CA346662482
- ClinVar RCV001730333
- gnomAD rs1157337875
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.09
- CADD 2.62
- PolyPhen-2 0.04
- SIFT 0.41
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available