N188S (p.Asn188Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
N188S (p.Asn188Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ichthyosis, annular epidermolytic, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N188S (p.Asn188Ser) variant details
- p.Asn188Ser
- rs58928370
- ClinGen CA217457
- ClinVar RCV000057091
- ClinVar RCV003448255
- Pathogenic/Likely pathogenic
- Ichthyosis, annular epidermolytic, 2; not provided
- 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: Pathogenic/Likely pathogenic (Ichthyosis, annular epidermolytic, 2; not provided)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available
- Cited in: Two families with Greither's syndrome caused by a keratin 1 mutation. (PMID 16227096)
- Cited in: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28… (PMID 21271994)