S53N (p.Ser53Asn) variant of ABCC8 (Q09428)
S53N (p.Ser53Asn) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- gnomAD rs1591928946
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.72
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available