A53E (p.Ala53Glu) variant of CALCA (P06881)
A53E (p.Ala53Glu) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A53E (p.Ala53Glu) variant details
- p.Ala53Glu
- gnomAD rs1555026125
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.22
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)