D71N (p.Asp71Asn) variant of CALR (Calreticulin)
D71N (p.Asp71Asn) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- gnomAD 19-12939445-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.19
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available