F536L (p.Phe536Leu) variant of ABCC8 (Q09428)
F536L (p.Phe536Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
F536L (p.Phe536Leu) variant details
- p.Phe536Leu
- rs193922396
- ClinGen CA213438
- ClinVar RCV000029251
- Ensembl rs193922396
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.22
- PolyPhen-2 0.77
- SIFT 0.20
- EVE 0.70
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available