N64K (p.Asn64Lys) variant of CLU (Clusterin)
N64K (p.Asn64Lys) in CLU (Clusterin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
N64K (p.Asn64Lys) variant details
- p.Asn64Lys
- cosmic curated COSV57067
- ESP rs146277764
- ExAC rs146277764
- TOPMed rs146277764
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0759
- REVEL 0.05
- CADD 7.00
- PolyPhen-2 0.69
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available