T808I (p.Thr808Ile) variant of SPINK5 (Q9NQ38)
T808I (p.Thr808Ile) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Netherton syndrome; Ichthyosis linearis circumflexa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T808I (p.Thr808Ile) variant details
- p.Thr808Ile
- rs1212676320
- ClinGen CA361646445
- ClinVar RCV001585952
- ClinVar RCV003595676
- Pathogenic/Likely pathogenic
- Netherton syndrome; Ichthyosis linearis circumflexa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.91
- CADD 19.80
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Netherton syndrome; Ichthyosis linearis circumflexa; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available