A54A (p.Ala54Ala) variant of RYR1 (Ryanodine receptor 1)
A54A (p.Ala54Ala) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs769042961
- gnomAD 19-38440861-G-A
- Synonymous
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Literature evidence available