D3Y (p.Asp3Tyr) variant of RYR2 (Ryanodine receptor 2)
D3Y (p.Asp3Tyr) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- gnomAD 1-237042528-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.49
- MetaLR 0.75
- MetaSVM 0.34
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available