L135V (p.Leu135Val) variant of CLU (Clusterin)
L135V (p.Leu135Val) in CLU (Clusterin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L135V (p.Leu135Val) variant details
- p.Leu135Val
- ESP rs369037481
- ExAC rs369037481
- TOPMed rs369037481
- gnomAD rs369037481
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.10
- CADD 20.00
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available