V1522M (p.Val1522Met) variant of ABCC8 (Q09428)
V1522M (p.Val1522Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
V1522M (p.Val1522Met) variant details
- p.Val1522Met
- rs193922407
- ClinGen CA213467
- ClinVar RCV005888692
- ClinVar RCV006461225
- Pathogenic
- Diabetes mellitus, permanent neonatal 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.85
- MetaLR 0.33
- MetaSVM -0.52
- PolyPhen-2 0.07
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 3; not provided)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)