D16E (p.Asp16Glu) variant of RYR1 (Ryanodine receptor 1)
D16E (p.Asp16Glu) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD 19-38440747-C-A
- Missense
- REVEL 0.30
- MetaLR 0.66
- MetaSVM 0.10
- CADD 0.03
- PolyPhen-2 0.17
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Literature evidence available