A47R (p.Ala47Arg) variant of CALCA (P06881)
A47R (p.Ala47Arg) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
A47R (p.Ala47Arg) variant details
- p.Ala47Arg
- rs781835072
- gnomAD 11-14970023-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Population evidence available
- Literature evidence available