N43T (p.Asn43Thr) variant of RYR1 (Ryanodine receptor 1)
N43T (p.Asn43Thr) 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 Congenital multicore myopathy with external ophthalmoplegia. The record also includes variant effect predictions and published literature.
N43T (p.Asn43Thr) variant details
- p.Asn43Thr
- rs1600630942
- ClinGen CA405671966
- ClinVar RCV003314527
- Ensembl rs1600630942
- Likely pathogenic
- Congenital multicore myopathy with external ophthalmoplegia
- Missense
- AlphaMissense 0.31
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.11
- MutPred 0.76
- ClinVar: Likely pathogenic (Congenital multicore myopathy with external ophthalmoplegia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)