A28V (p.Ala28Val) variant of KCNJ11 (Q14654)
A28V (p.Ala28Val) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus; Maturity-ons. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs754683593
- ClinGen CA5902338
- ClinVar RCV001375994
- ClinVar RCV005050360
- Uncertain significance
- Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellitus; Maturity-ons
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.24
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 3; Type 2 diabetes mellit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)