N188I (p.Asn188Ile) variant of KRT1 (Keratin, type II cytoskeletal 1)
N188I (p.Asn188Ile) 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 Epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
N188I (p.Asn188Ile) variant details
- p.Asn188Ile
- rs58928370
- ClinGen CA384974917
- ClinVar RCV001823798
- Ensembl rs58928370
- Likely pathogenic
- Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Epidermolytic ichthyosis)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available