L4647Q (p.Leu4647Gln) variant of RYR1 (Ryanodine receptor 1)
L4647Q (p.Leu4647Gln) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Centronuclear myopathy. The record also includes variant effect predictions.
L4647Q (p.Leu4647Gln) variant details
- p.Leu4647Gln
- rs1555801902
- ClinVar RCV004587605
- Likely pathogenic
- Centronuclear myopathy
- Missense
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Likely pathogenic (Centronuclear myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic