Y58H (p.Tyr58His) variant of CALCA (P06881)
Y58H (p.Tyr58His) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y58H (p.Tyr58His) variant details
- p.Tyr58His
- gnomAD 11-14968939-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.34
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available