T61M (p.Thr61Met) variant of CETP (P11597)
T61M (p.Thr61Met) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperalphalipoproteinemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T61M (p.Thr61Met) variant details
- p.Thr61Met
- rs142464301
- ClinGen CA8070811
- ClinVar RCV001899560
- ClinVar RCV002490063
- Uncertain significance
- not provided; Hyperalphalipoproteinemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.66
- CADD 17.20
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hyperalphalipoproteinemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: CETP-Related Hyperalphalipoproteinemia. (PMID 40339105)