Y54C (p.Tyr54Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
Y54C (p.Tyr54Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- rs2120583347
- ClinGen CA384997242
- cosmic curated COSV99509
- ClinVar RCV001765401
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.07
- MetaLR 0.69
- MetaSVM -0.23
- PolyPhen-2 0.97
- SIFT 0.07
- EVE 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID 12724528)