P35S (p.Pro35Ser) variant of ABCC8 (Q09428)
P35S (p.Pro35Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs1183465672
- ClinGen CA379789992
- ClinVar RCV000666845
- ClinVar RCV002254305
- Uncertain significance
- Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Transitory neonatal diabetes mellitus; Maturity-onset diabetes o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)