A187V (p.Ala187Val) variant of KCNJ11 (Q14654)
A187V (p.Ala187Val) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hyperinsulinism; Permanent neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A187V (p.Ala187Val) variant details
- p.Ala187Val
- rs1371185696
- ClinGen CA379772664
- cosmic curated COSV60595
- ClinVar RCV001868211
- Pathogenic/Likely pathogenic
- not provided; Familial hyperinsulinism; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hyperinsulinism; Permanent neonatal diabe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)