R48A (p.Arg48Ala) variant of CALCA (P06881)
R48A (p.Arg48Ala) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
R48A (p.Arg48Ala) variant details
- p.Arg48Ala
- rs782728083
- gnomAD 11-14970020-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 12.30
- Population evidence available
- Literature evidence available