K29R (p.Lys29Arg) variant of RYR1 (Ryanodine receptor 1)
K29R (p.Lys29Arg) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD rs1285741243
- Missense
- REVEL 0.61
- MetaLR 0.90
- MetaSVM 0.89
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)