L6V (p.Leu6Val) variant of CLU (Clusterin)
L6V (p.Leu6Val) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1463321251
- gnomAD rs1463321251
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.14
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available