P53L (p.Pro53Leu) variant of ABCG5 (Q9H222)
P53L (p.Pro53Leu) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCG5-related disorder; Cardiovascular phenotype; Sitosterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs1395568891
- ClinGen CA346661614
- ClinVar RCV003306343
- ClinVar RCV003420650
- Uncertain significance
- ABCG5-related disorder; Cardiovascular phenotype; Sitosterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 25.00
- PolyPhen-2 0.73
- SIFT 0.03
- ClinVar: Uncertain significance (ABCG5-related disorder; Cardiovascular phenotype; Sitosterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)