R50L (p.Arg50Leu) variant of KCNJ11 (Q14654)
R50L (p.Arg50Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely risk allele in the context of Transitory neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- rs80356611
- ClinGen CA379776349
- ClinVar RCV002227391
- Ensembl rs80356611
- Likely risk allele
- Transitory neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- AlphaMissense 0.56
- MetaLR 0.83
- MetaSVM 0.79
- CADD 26.90
- PolyPhen-2 0.61
- ClinVar: Likely risk allele (Transitory neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available