A65P (p.Ala65Pro) variant of CETP (P11597)
A65P (p.Ala65Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- rs369294786
- ClinGen CA8070817
- ClinVar RCV002045198
- ESP rs369294786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.10
- CADD 12.80
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available