A47P (p.Ala47Pro) variant of CALCA (P06881)
A47P (p.Ala47Pro) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
A47P (p.Ala47Pro) variant details
- p.Ala47Pro
- gnomAD 11-14970023-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.19
- CADD 14.40
- PolyPhen-2 0.79
- SIFT 0.01
- Population evidence available
- Literature evidence available