D60H (p.Asp60His) variant of RYR1 (Ryanodine receptor 1)
D60H (p.Asp60His) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
D60H (p.Asp60His) variant details
- p.Asp60His
- rs118192160
- ClinGen CA405673701
- NCI-TCGA Cosmic COSV6208
- cosmic curated COSV62087
- Pathogenic
- Missense
- REVEL 0.92
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.50
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)