A38T (p.Ala38Thr) variant of RYR1 (Ryanodine receptor 1)
A38T (p.Ala38Thr) 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.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs377558801
- ClinGen CA056689
- ClinVar RCV000815396
- ClinVar RCV002495150
- Uncertain significance
- Missense
- REVEL 0.38
- MetaLR 0.95
- MetaSVM 1.17
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)