G22S (p.Gly22Ser) variant of ABCG8 (Q9H221)
G22S (p.Gly22Ser) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Sitosterolemia 1. 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.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs373228989
- ClinGen CA1636881
- ClinVar RCV002011760
- ClinVar RCV002361393
- Uncertain significance
- not provided; Cardiovascular phenotype; Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)