A49P (p.Ala49Pro) variant of CLU (Clusterin)
A49P (p.Ala49Pro) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- gnomAD 8-27600013-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 5.86
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available