D3D (p.Asp3Asp) variant of RYR2 (Ryanodine receptor 2)
D3D (p.Asp3Asp) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D3D (p.Asp3Asp) variant details
- p.Asp3Asp
- gnomAD 1-237042530-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available