L42F (p.Leu42Phe) variant of CALCA (P06881)
L42F (p.Leu42Phe) in CALCA (P06881) 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.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- ExAC rs782336914
- TOPMed rs782336914
- gnomAD rs782336914
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.22
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)