Q33P (p.Gln33Pro) variant of HTT (Huntingtin)
Q33P (p.Gln33Pro) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q33P (p.Gln33Pro) variant details
- p.Gln33Pro
- rs1302432328
- ClinGen CA356075054
- ClinVar RCV002674527
- gnomAD rs1302432328
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.22
- MutPred 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)