S21L (p.Ser21Leu) variant of ABCG8 (Q9H221)
S21L (p.Ser21Leu) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Sitosterolemia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- rs144411000
- ClinGen CA1636859
- cosmic curated COSV10455
- ClinVar RCV000729605
- Conflicting interpretations
- Cardiovascular phenotype; Sitosterolemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.18
- CADD 2.89
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Sitosterolemia 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)