S148L (p.Ser148Leu) variant of CLU (Clusterin)
S148L (p.Ser148Leu) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S148L (p.Ser148Leu) variant details
- p.Ser148Leu
- cosmic curated COSV57065
- TOPMed rs866333982
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available