S69N (p.Ser69Asn) variant of CALR (Calreticulin)
S69N (p.Ser69Asn) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- gnomAD 19-12939440-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.25
- CADD 25.70
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available