D19H (p.Asp19His) variant of ABCG8 (Q9H221)
D19H (p.Asp19His) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign; association in the context of Cardiovascular phenotype; Sitosterolemia 1; Sitosterolemia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- rs11887534
- ClinGen CA117156
- cosmic curated COSV53211
- ClinVar RCV000005263
- Benign/Likely benign; association
- Cardiovascular phenotype; Sitosterolemia 1; Sitosterolemia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Benign/Likely benign; association (Cardiovascular phenotype; Sitosterolemia 1; Sitosterolemia 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available
- Cited in: Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving… (PMID 11452359)
- Cited in: Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (PMID 11668628)