P86L (p.Pro86Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P86L (p.Pro86Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- ExAC rs749279566
- gnomAD rs749279566
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance