N72S (p.Asn72Ser) variant of ABCC8 (Q09428)
N72S (p.Asn72Ser) 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; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- rs80356634
- ClinGen CA340870
- ClinVar RCV000009677
- ClinVar RCV001089459
- Conflicting interpretations
- not specified; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.61
- CADD 23.30
- PolyPhen-2 0.30
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (not specified; Type 2 diabetes mellitus)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite… (PMID 17668386)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)