K107R (p.Lys107Arg) variant of XPC (Q01831)
K107R (p.Lys107Arg) in XPC (Q01831) 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.
K107R (p.Lys107Arg) variant details
- p.Lys107Arg
- Ensembl rs1696569142
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available