A126V (p.Ala126Val) variant of CLU (Clusterin)
A126V (p.Ala126Val) 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.
A126V (p.Ala126Val) variant details
- p.Ala126Val
- ESP rs377249021
- ExAC rs377249021
- gnomAD rs377249021
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.28
- CADD 29.20
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available