D16D (p.Asp16Asp) variant of RYR1 (Ryanodine receptor 1)
D16D (p.Asp16Asp) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
D16D (p.Asp16Asp) variant details
- p.Asp16Asp
- rs750329137
- gnomAD 19-38440747-C-T
- Splice Region
- CADD 0.15
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Literature evidence available