L28F (p.Leu28Phe) variant of RYR1 (Ryanodine receptor 1)
L28F (p.Leu28Phe) 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.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs1242495143
- ClinGen CA405671596
- cosmic curated COSV62114
- ClinVar RCV000655549
- Uncertain significance
- Missense
- REVEL 0.45
- MetaLR 0.92
- MetaSVM 1.11
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)