R48P (p.Arg48Pro) variant of CALCA (P06881)
R48P (p.Arg48Pro) in CALCA (P06881) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- rs1555026136
- gnomAD 11-14970018-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 21.00
- Population evidence available
- Literature evidence available