F46L (p.Phe46Leu) variant of CALR (Calreticulin)
F46L (p.Phe46Leu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- gnomAD 19-12939178-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available