H30P (p.His30Pro) variant of RYR3 (Ryanodine receptor 3)
H30P (p.His30Pro) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
H30P (p.His30Pro) variant details
- p.His30Pro
- gnomAD 15-33473456-A-C
- Missense
- MetaLR 0.88
- MetaSVM 0.86
- CADD 22.30
- PolyPhen-2 0.37
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available