S87R (p.Ser87Arg) variant of ABCG5 (Q9H222)
S87R (p.Ser87Arg) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S87R (p.Ser87Arg) variant details
- p.Ser87Arg
- TOPMed rs1232276390
- gnomAD rs1232276390
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.67
- CADD 24.70
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available