P2T (p.Pro2Thr) variant of ABCC8 (Q09428)
P2T (p.Pro2Thr) 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; ABCC8-related disorder; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- rs756552692
- ClinGen CA379790485
- ClinVar RCV001280387
- ClinVar RCV002486074
- Uncertain significance
- not provided; ABCC8-related disorder; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided; ABCC8-related disorder; Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)