T15A (p.Thr15Ala) variant of RYR1 (Ryanodine receptor 1)
T15A (p.Thr15Ala) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- ExAC rs775607650
- gnomAD rs775607650
- Missense
- REVEL 0.77
- MetaLR 0.93
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)