R48H (p.Arg48His) variant of CALCA (P06881)
R48H (p.Arg48His) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
R48H (p.Arg48His) variant details
- p.Arg48His
- ExAC rs782198733
- TOPMed rs782198733
- gnomAD rs782198733
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- CADD 14.20
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the South Asian population (allele frequency 8.1e-05)