N67Y (p.Asn67Tyr) variant of RYR3 (Ryanodine receptor 3)
N67Y (p.Asn67Tyr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N67Y (p.Asn67Tyr) variant details
- p.Asn67Tyr
- gnomAD 15-33503658-A-T
- Missense
- MetaLR 0.91
- MetaSVM 0.96
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available