P43Q (p.Pro43Gln) variant of HTT (Huntingtin)
P43Q (p.Pro43Gln) 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 record also includes structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- ExAC rs775838708
- gnomAD rs775838708
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available