H30R (p.His30Arg) variant of RYR3 (Ryanodine receptor 3)
H30R (p.His30Arg) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
H30R (p.His30Arg) variant details
- p.His30Arg
- cosmic curated COSV66807
- ExAC rs768998998
- TOPMed rs768998998
- gnomAD rs768998998
- Missense
- MetaLR 0.78
- MetaSVM 0.50
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)