N53S (p.Asn53Ser) variant of RYR1 (Ryanodine receptor 1)
N53S (p.Asn53Ser) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- gnomAD 19-38440857-A-G
- Missense
- REVEL 0.54
- MetaLR 0.93
- MetaSVM 1.06
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available