D57H (p.Asp57His) variant of CALCA (P06881)
D57H (p.Asp57His) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D57H (p.Asp57His) variant details
- p.Asp57His
- 1000Genomes rs5239
- ESP rs5239
- ExAC rs5239
- TOPMed rs5239
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available