A1184V (p.Ala1184Val) variant of ABCC8 (Q09428)
A1184V (p.Ala1184Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A1184V (p.Ala1184Val) variant details
- p.Ala1184Val
- rs137852675
- ClinGen CA379797331
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56846
- Conflicting interpretations
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.91
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic (in PNDM3)
- UniProt: Likely pathogenic (in PNDM3)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)