E65K (p.Glu65Lys) variant of CLU (Clusterin)
E65K (p.Glu65Lys) in CLU (Clusterin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- rs766667870
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- ExAC rs766667870
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.64
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available