V86G (p.Val86Gly) variant of ABCC8 (Q09428)
V86G (p.Val86Gly) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
V86G (p.Val86Gly) variant details
- p.Val86Gly
- rs193929360
- ClinGen CA340877
- ClinVar RCV000009681
- ClinVar RCV001089462
- Pathogenic
- Diabetes mellitus, permanent neonatal 3
- 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: Pathogenic (Diabetes mellitus, permanent neonatal 3)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)