T321P (p.Thr321Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
T321P (p.Thr321Pro) 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 Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
T321P (p.Thr321Pro) variant details
- p.Thr321Pro
- rs1938635857
- ClinGen CA384926660
- ClinVar RCV001352779
- UniProt VAR 071632
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.97
- MetaLR 0.72
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- 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)