L9F (p.Leu9Phe) variant of CALR (Calreticulin)
L9F (p.Leu9Phe) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 19-12938704-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available