V128I (p.Val128Ile) variant of CLU (Clusterin)
V128I (p.Val128Ile) in CLU (Clusterin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V128I (p.Val128Ile) variant details
- p.Val128Ile
- rs150438413
- ClinGen CA4690990
- cosmic curated COSV10032
- ClinVar RCV000901031
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- CADD 19.70
- PolyPhen-2 0.44
- SIFT 0.19
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available