P2S (p.Pro2Ser) variant of ABCC8 (Q09428)
P2S (p.Pro2Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Maturity-onset diabetes of the young; Transitory neonat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs756552692
- ClinGen CA5904003
- ClinVar RCV002254255
- ClinVar RCV002254256
- Uncertain significance
- Inborn genetic diseases; Maturity-onset diabetes of the young; Transitory neonat
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Maturity-onset diabetes of the young; T)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)