S55N (p.Ser55Asn) variant of ABCC8 (Q09428)
S55N (p.Ser55Asn) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S55N (p.Ser55Asn) variant details
- p.Ser55Asn
- TOPMed rs1452808123
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.59
- CADD 23.70
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available