D17D (p.Asp17Asp) variant of RYR2 (Ryanodine receptor 2)
D17D (p.Asp17Asp) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- rs373674802
- gnomAD 1-237270499-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.67
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available