M67K (p.Met67Lys) variant of CETP (P11597)
M67K (p.Met67Lys) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
M67K (p.Met67Lys) variant details
- p.Met67Lys
- rs762087842
- ClinGen CA8070821
- ClinVar RCV004089050
- ExAC rs762087842
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0495
- REVEL 0.03
- CADD 1.53
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available