S52N (p.Ser52Asn) variant of RYR1 (Ryanodine receptor 1)
S52N (p.Ser52Asn) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- ExAC rs756570405
- gnomAD rs756570405
- Missense
- REVEL 0.63
- MetaLR 0.95
- MetaSVM 1.12
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)