G70R (p.Gly70Arg) variant of ABCC8 (Q09428)
G70R (p.Gly70Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs764349043
- ClinGen CA5903949
- ClinVar RCV002224395
- ClinVar RCV002487022
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)