V33L (p.Val33Leu) variant of ABCC8 (Q09428)
V33L (p.Val33Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 2; Leucine-induced hypoglycemia; Type 2 d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs768372267
- ExAC rs768372267
- gnomAD rs768372267
- ClinGen CA379790008
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Leucine-induced hypoglycemia; Type 2 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.29
- MetaLR 0.67
- MetaSVM 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.09
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Leucine-induced hypogl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)