Q72P (p.Gln72Pro) variant of RYR3 (Ryanodine receptor 3)
Q72P (p.Gln72Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
Q72P (p.Gln72Pro) variant details
- p.Gln72Pro
- gnomAD 15-33503674-A-C
- Missense
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available