V86A (p.Val86Ala) variant of ABCC8 (Q09428)
V86A (p.Val86Ala) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V86A (p.Val86Ala) variant details
- p.Val86Ala
- rs193929360
- ClinGen CA341686
- ClinVar RCV000020285
- ClinVar RCV003137539
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.39
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy… (PMID 17213273)
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)