A54P (p.Ala54Pro) variant of RYR1 (Ryanodine receptor 1)
A54P (p.Ala54Pro) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A54P (p.Ala54Pro) variant details
- p.Ala54Pro
- gnomAD 19-38440859-G-C
- Missense
- REVEL 0.72
- MetaLR 0.93
- MetaSVM 1.01
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Literature evidence available