N176S (p.Asn176Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
N176S (p.Asn176Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa simplex with mottled pigmentation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
N176S (p.Asn176Ser) variant details
- p.Asn176Ser
- rs59092197
- ClinGen CA216740
- ClinVar RCV000056609
- ClinVar RCV003152677
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex with mottled pigmentation
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa simplex with mottled pigment)
- EBI: Pathogenic (in EBS2A)
- UniProt: Pathogenic (in EBS2A)
- Structural context available
- Cited in: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID 16882168)
- Cited in: Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in… (PMID 9036937)