N48S (p.Asn48Ser) variant of CLU (Clusterin)
N48S (p.Asn48Ser) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- gnomAD rs1293674091
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available