V33M (p.Val33Met) variant of ABCC8 (Q09428)
V33M (p.Val33Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- rs768372267
- ClinGen CA5903983
- ClinVar RCV002254367
- ClinVar RCV002254368
- Uncertain significance
- Transitory neonatal diabetes mellitus; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.49
- AlphaMissense 0.29
- MetaLR 0.67
- MetaSVM 0.02
- CADD 26.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Transitory neonatal diabetes mellitus; Maturity-onset diabetes o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)