N53N (p.Asn53Asn) variant of RYR1 (Ryanodine receptor 1)
N53N (p.Asn53Asn) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
N53N (p.Asn53Asn) variant details
- p.Asn53Asn
- rs780591516
- gnomAD 19-38440858-C-T
- Synonymous
- CADD 4.06
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Literature evidence available