D17E (p.Asp17Glu) variant of RYR1 (Ryanodine receptor 1)
D17E (p.Asp17Glu) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- gnomAD 19-38440750-T-G
- Missense
- REVEL 0.61
- MetaLR 0.96
- MetaSVM 1.10
- CADD 15.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Literature evidence available