E3K (p.Glu3Lys) variant of RYR3 (Ryanodine receptor 3)
E3K (p.Glu3Lys) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 15-33311052-G-A
- Missense
- MetaLR 0.92
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Literature evidence available