S35N (p.Ser35Asn) variant of ABCG8 (Q9H221)
S35N (p.Ser35Asn) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- TOPMed rs1329698673
- gnomAD rs1329698673
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.40
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available