E33G (p.Glu33Gly) variant of CALCA (P06881)
E33G (p.Glu33Gly) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- ExAC rs782225521
- gnomAD rs782225521
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- CADD 19.60
- PolyPhen-2 0.80
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)