R48C (p.Arg48Cys) variant of CALCA (P06881)
R48C (p.Arg48Cys) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- cosmic curated COSV59027
- ExAC rs782424054
- TOPMed rs782424054
- gnomAD rs782424054
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.94
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)