L49F (p.Leu49Phe) variant of CALCA (P06881)
L49F (p.Leu49Phe) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- ExAC rs782583738
- TOPMed rs782583738
- gnomAD rs782583738
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.05
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)