S87I (p.Ser87Ile) variant of ABCG5 (Q9H222)
S87I (p.Ser87Ile) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S87I (p.Ser87Ile) variant details
- p.Ser87Ile
- rs1471323186
- ClinGen CA346661391
- ClinVar RCV003306344
- TOPMed rs1471323186
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.69
- CADD 24.60
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available