H30Q (p.His30Gln) variant of RYR3 (Ryanodine receptor 3)
H30Q (p.His30Gln) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs1335066924
- TOPMed rs1335066924
- gnomAD rs1335066924
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.72
- MetaSVM 0.06
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.54
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)