H84P (p.His84Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H84P (p.His84Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
H84P (p.His84Pro) variant details
- p.His84Pro
- ExAC rs754865574
- TOPMed rs754865574
- gnomAD rs754865574
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance