F27L (p.Phe27Leu) variant of CALR (Calreticulin)
F27L (p.Phe27Leu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- gnomAD 19-12938760-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available