D57A (p.Asp57Ala) variant of CALCA (P06881)
D57A (p.Asp57Ala) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D57A (p.Asp57Ala) variant details
- p.Asp57Ala
- gnomAD 11-14969992-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.09
- CADD 20.20
- PolyPhen-2 0.13
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available