E33K (p.Glu33Lys) variant of CALCA (P06881)
E33K (p.Glu33Lys) 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.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD rs1555026182
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)