N67T (p.Asn67Thr) variant of RYR3 (Ryanodine receptor 3)
N67T (p.Asn67Thr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
N67T (p.Asn67Thr) variant details
- p.Asn67Thr
- gnomAD 15-33503659-A-C
- Missense
- MetaLR 0.68
- MetaSVM -0.08
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available