P122R (p.Pro122Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P122R (p.Pro122Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
P122R (p.Pro122Arg) variant details
- p.Pro122Arg
- TOPMed rs1356975720
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance