D31D (p.Asp31Asp) variant of CALR (Calreticulin)
D31D (p.Asp31Asp) in CALR (Calreticulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D31D (p.Asp31Asp) variant details
- p.Asp31Asp
- rs768567178
- gnomAD 19-12939135-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available