S87N (p.Ser87Asn) variant of ABCG5 (Q9H222)
S87N (p.Ser87Asn) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- TOPMed rs1471323186
- gnomAD rs1471323186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.38
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.79
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available