E30K (p.Glu30Lys) variant of RYR1 (Ryanodine receptor 1)
E30K (p.Glu30Lys) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- ExAC rs746378173
- gnomAD rs746378173
- Missense
- REVEL 0.83
- MetaLR 0.93
- MetaSVM 1.04
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)