V21D (p.Val21Asp) variant of ABCC8 (Q09428)
V21D (p.Val21Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hyperinsulinism; ABCC8-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V21D (p.Val21Asp) variant details
- p.Val21Asp
- rs200670692
- ClinGen CA5903992
- ClinVar RCV000588969
- ClinVar RCV000666072
- Pathogenic/Likely pathogenic
- not provided; Familial hyperinsulinism; ABCC8-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hyperinsulinism; ABCC8-related disorder)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)