H42Q (p.His42Gln) variant of CETP (P11597)
H42Q (p.His42Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
H42Q (p.His42Gln) variant details
- p.His42Gln
- rs776857859
- ExAC rs776857859
- TOPMed rs776857859
- gnomAD rs776857859
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- CADD 4.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available