D57E (p.Asp57Glu) variant of CALCA (P06881)
D57E (p.Asp57Glu) 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, published literature, and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- gnomAD 11-14969991-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.04
- CADD 18.00
- PolyPhen-2 0.55
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available