Q35P (p.Gln35Pro) variant of HTT (Huntingtin)
Q35P (p.Gln35Pro) in HTT (Huntingtin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q35P (p.Gln35Pro) variant details
- p.Gln35Pro
- rs587777899
- ClinGen CA248405
- ClinVar RCV000190286
- gnomAD rs587777899
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.44
- MutPred 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available