K2Q (p.Lys2Gln) variant of SPINK5 (Q9NQ38)
K2Q (p.Lys2Gln) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Netherton syndrome. The record also includes structural context.
K2Q (p.Lys2Gln) variant details
- p.Lys2Gln
- rs2127180920
- ClinGen CA361887278
- ClinVar RCV002031062
- Ensembl rs2127180920
- Uncertain significance
- Netherton syndrome
- Missense
- ClinVar: Uncertain significance (Netherton syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available