V6D (p.Val6Asp) variant of CETP (P11597)
V6D (p.Val6Asp) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V6D (p.Val6Asp) variant details
- p.Val6Asp
- rs34119551
- ClinGen CA8070729
- ClinVar RCV003548572
- 1000Genomes rs34119551
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.68
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.029)
- Structural context available