P231T (p.Pro231Thr) variant of ABCG8 (Q9H221)
P231T (p.Pro231Thr) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P231T (p.Pro231Thr) variant details
- p.Pro231Thr
- rs137852993
- ClinGen CA253369
- ClinVar RCV000005262
- UniProt VAR 012253
- Pathogenic
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.72
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Sitosterolemia 1)
- EBI: Pathogenic (in STSL1)
- UniProt: Pathogenic (in STSL1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (PMID 11099417)
- Cited in: Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving… (PMID 11452359)