K57R (p.Lys57Arg) variant of ABCC8 (Q09428)
K57R (p.Lys57Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Maturity-onset diabetes of the young; Transitory neonatal diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- rs762919223
- ClinGen CA5903953
- ClinVar RCV000710374
- ClinVar RCV001825409
- Uncertain significance
- not provided; Maturity-onset diabetes of the young; Transitory neonatal diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.66
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Maturity-onset diabetes of the young; Transitory n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)