S59F (p.Ser59Phe) variant of ABCG5 (Q9H222)
S59F (p.Ser59Phe) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
S59F (p.Ser59Phe) variant details
- p.Ser59Phe
- gnomAD rs1428419912
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.00
- PolyPhen-2 0.83
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available