S53R (p.Ser53Arg) variant of ABCC8 (Q09428)
S53R (p.Ser53Arg) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- gnomAD rs1285560687
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.65
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available