L49P (p.Leu49Pro) variant of CALCA (P06881)
L49P (p.Leu49Pro) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- gnomAD 11-14970016-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.21
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available