I14R (p.Ile14Arg) variant of CALCA (P06881)
I14R (p.Ile14Arg) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
I14R (p.Ile14Arg) variant details
- p.Ile14Arg
- gnomAD 11-14971148-CAAGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 28.10
- Population evidence available
- Literature evidence available