D60G (p.Asp60Gly) variant of RYR1 (Ryanodine receptor 1)
D60G (p.Asp60Gly) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions.
D60G (p.Asp60Gly) variant details
- p.Asp60Gly
- rs1555762532
- ClinGen CA405673708
- ClinVar RCV000662287
- Ensembl rs1555762532
- Likely pathogenic
- Missense
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.72
- EBI: Likely pathogenic
- UniProt: Likely pathogenic