R27H (p.Arg27His) variant of KCNJ11 (Q14654)
R27H (p.Arg27His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Maturity-onset diabetes of the young; Maturity-onset diabetes of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs774714794
- ClinGen CA5902339
- ClinVar RCV000389894
- ClinVar RCV001833339
- Conflicting interpretations
- not specified; Maturity-onset diabetes of the young; Maturity-onset diabetes of
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.15
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not specified; Maturity-onset diabetes of the young; Maturity-on)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)