E46S (p.Glu46Ser) variant of CALCA (P06881)
E46S (p.Glu46Ser) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
E46S (p.Glu46Ser) variant details
- p.Glu46Ser
- rs782436578
- gnomAD 11-14970026-C-CAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 22.80
- Most common in the South Asian population (allele frequency 7e-05)
- Literature evidence available