P50T (p.Pro50Thr) variant of RYR1 (Ryanodine receptor 1)
P50T (p.Pro50Thr) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD 19-38440847-C-A
- Missense
- REVEL 0.59
- MetaLR 0.85
- MetaSVM 0.66
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Literature evidence available