V21I (p.Val21Ile) variant of ABCC8 (Q09428)
V21I (p.Val21Ile) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs1176097396
- ClinGen CA379790102
- ClinVar RCV003322280
- TOPMed rs1176097396
- Uncertain significance
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.62
- CADD 26.70
- PolyPhen-2 0.34
- SIFT 0.02
- ClinVar: Uncertain significance (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Variant of uncertain significance (in HHF1)
- UniProt: Uncertain significance (in HHF1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)