E30D (p.Glu30Asp) variant of RYR1 (Ryanodine receptor 1)
E30D (p.Glu30Asp) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD 19-38440789-G-C
- Missense
- REVEL 0.47
- MetaLR 0.87
- MetaSVM 0.74
- CADD 22.40
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Literature evidence available