S1422T (p.Ser1422Thr) variant of ABCC8 (Q09428)
S1422T (p.Ser1422Thr) 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 0.67 / 1. The record also includes population frequency data and structural context.
S1422T (p.Ser1422Thr) variant details
- p.Ser1422Thr
- rs2133401009
- ClinGen CA379786622
- ClinVar RCV002052026
- Ensembl rs2133401009
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available