D29N (p.Asp29Asn) variant of CALR (Calreticulin)
D29N (p.Asp29Asn) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- gnomAD 19-12938764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.17
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available