S1385P (p.Ser1385Pro) variant of ABCC8 (Q09428)
S1385P (p.Ser1385Pro) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S1385P (p.Ser1385Pro) variant details
- p.Ser1385Pro
- rs2133402479
- ClinGen CA379788192
- ClinVar RCV001817985
- ClinVar RCV003388053
- Likely pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic (in HHF1)
- UniProt: Likely pathogenic (in HHF1)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)