Q22H (p.Gln22His) variant of RYR1 (Ryanodine receptor 1)
Q22H (p.Gln22His) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
Q22H (p.Gln22His) variant details
- p.Gln22His
- ExAC rs753752475
- TOPMed rs753752475
- gnomAD rs753752475
- Uncertain significance
- not provided
- Missense
- REVEL 0.69
- MetaLR 0.94
- MetaSVM 1.03
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)