S32G (p.Ser32Gly) variant of ABCG8 (Q9H221)
S32G (p.Ser32Gly) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Sitosterolemia 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- rs148370122
- ClinGen CA1636886
- ClinVar RCV000403947
- ClinVar RCV000967641
- Benign/Likely benign
- not provided; Sitosterolemia 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.17
- ClinVar: Benign/Likely benign (not provided; Sitosterolemia 1; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.075)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)