D31N (p.Asp31Asn) variant of CALR (Calreticulin)
D31N (p.Asp31Asn) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- gnomAD 19-12938770-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.25
- CADD 36.00
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available