P33L (p.Pro33Leu) variant of ABCG5 (Q9H222)
P33L (p.Pro33Leu) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs778605187
- ClinGen CA1636803
- ClinVar RCV002928691
- ClinVar RCV005382502
- Conflicting interpretations
- Cardiovascular phenotype; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 4.40
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Sitosterolemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)