D10Y (p.Asp10Tyr) variant of RYR3 (Ryanodine receptor 3)
D10Y (p.Asp10Tyr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
D10Y (p.Asp10Tyr) variant details
- p.Asp10Tyr
- cosmic curated COSV66783
- gnomAD rs1165107449
- Missense
- MetaLR 0.94
- MetaSVM 0.72
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)