D212Y (p.Asp212Tyr) variant of ABCC8 (Q09428)
D212Y (p.Asp212Tyr) 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 0.82 / 1. The record also includes structural context.
D212Y (p.Asp212Tyr) variant details
- p.Asp212Tyr
- rs2133680409
- ClinGen CA379778991
- ClinVar RCV002052021
- Ensembl rs2133680409
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.87
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available