S22G (p.Ser22Gly) variant of SPINK5 (Q9NQ38)
S22G (p.Ser22Gly) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis linearis circumflexa. The record also includes structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- rs2127182478
- ClinGen CA361887459
- ClinVar RCV003772863
- Ensembl rs2127182478
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available