Q27P (p.Gln27Pro) variant of HTT (Huntingtin)
Q27P (p.Gln27Pro) in HTT (Huntingtin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
Q27P (p.Gln27Pro) variant details
- p.Gln27Pro
- rs1712393582
- ClinGen CA356074878
- ClinVar RCV002808731
- TOPMed rs1712393582
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -0.78
- PolyPhen-2 0.99
- SIFT 0.05
- MutPred 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)