L11F (p.Leu11Phe) variant of CALR (Calreticulin)
L11F (p.Leu11Phe) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- ExAC rs770160684
- TOPMed rs770160684
- gnomAD rs770160684
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available