A4V (p.Ala4Val) variant of ABCC8 (Q09428)
A4V (p.Ala4Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs2133738359
- ClinGen CA379790450
- ClinVar RCV001353383
- ClinVar RCV004526116
- Conflicting interpretations
- not specified; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.71
- CADD 28.20
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)