A47E (p.Ala47Glu) variant of CALCA (P06881)
A47E (p.Ala47Glu) 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 and published literature.
A47E (p.Ala47Glu) variant details
- p.Ala47Glu
- gnomAD 11-14970022-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.52
- SIFT 0.03
- Population evidence available
- Literature evidence available