E39Q (p.Glu39Gln) variant of RYR1 (Ryanodine receptor 1)
E39Q (p.Glu39Gln) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD 19-38440814-G-C
- Missense
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Literature evidence available