T26P (p.Thr26Pro) variant of RYR1 (Ryanodine receptor 1)
T26P (p.Thr26Pro) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
T26P (p.Thr26Pro) variant details
- p.Thr26Pro
- rs1972635177
- ClinGen CA405671569
- ClinVar RCV001127220
- ClinVar RCV001127221
- Uncertain significance
- Missense
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.16
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)