S178P (p.Ser178Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
S178P (p.Ser178Pro) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Annular epidermolytic ichthyosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
S178P (p.Ser178Pro) variant details
- p.Ser178Pro
- rs1941559064
- ClinGen CA384975127
- ClinVar RCV001270734
- ClinVar RCV004719125
- Likely pathogenic
- Annular epidermolytic ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.26
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.36
- ClinVar: Likely pathogenic (Annular epidermolytic ichthyosis; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available