L196P (p.Leu196Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
L196P (p.Leu196Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L196P (p.Leu196Pro) variant details
- p.Leu196Pro
- rs1938666838
- ClinGen CA384927906
- ClinVar RCV001352777
- ClinVar RCV001813823
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)