S7P (p.Ser7Pro) variant of SPINK5 (Q9NQ38)
S7P (p.Ser7Pro) 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.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- rs1752512482
- ClinGen CA361887334
- cosmic curated COSV56255
- ClinVar RCV003770606
- Uncertain significance
- Ichthyosis linearis circumflexa
- Missense
- ClinVar: Uncertain significance (Ichthyosis linearis circumflexa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available