N43N (p.Asn43Asn) variant of RYR1 (Ryanodine receptor 1)
N43N (p.Asn43Asn) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
N43N (p.Asn43Asn) variant details
- p.Asn43Asn
- gnomAD 19-38440828-C-T
- Synonymous
- CADD 8.78
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Literature evidence available