E33Q (p.Glu33Gln) variant of CALCA (P06881)
E33Q (p.Glu33Gln) 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.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- gnomAD rs1555026182
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.85
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)