R165S (p.Arg165Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
R165S (p.Arg165Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R165S (p.Arg165Ser) variant details
- p.Arg165Ser
- rs267607456
- ClinGen CA216727
- NCI-TCGA Cosmic COSV5285
- NCI-TCGA Cosmic COSV5286
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in EBS2A)
- UniProt: Pathogenic (in EBS2A)
- Structural context available
- Cited in: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (PMID 21623745)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)