P45L (p.Pro45Leu) variant of ABCC8 (Q09428)
P45L (p.Pro45Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs267606623
- ClinGen CA254640
- ClinVar RCV000009680
- ClinVar RCV002512948
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.82
- CADD 26.60
- PolyPhen-2 0.42
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in PNDM3)
- UniProt: Pathogenic (in PNDM3)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)