F56L (p.Phe56Leu) variant of CALR (Calreticulin)
F56L (p.Phe56Leu) 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 and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- ExAC rs757608389
- gnomAD rs757608389
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available