R50W (p.Arg50Trp) variant of KCNJ11 (Q14654)
R50W (p.Arg50Trp) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- rs1221366142
- ClinGen CA379776370
- ClinVar RCV003740019
- TOPMed rs1221366142
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.91
- AlphaMissense 0.44
- MetaLR 0.94
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in PNDM2)
- UniProt: Uncertain significance (in PNDM2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available