E33D (p.Glu33Asp) variant of CALCA (P06881)
E33D (p.Glu33Asp) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD 11-14970063-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.10
- CADD 5.62
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available