F83L (p.Phe83Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
F83L (p.Phe83Leu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- rs1372929067
- ClinGen CA384930141
- ClinVar RCV001115127
- ClinVar RCV005652518
- Uncertain significance
- Inborn genetic diseases; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases; Epidermolysis bullosa simplex)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)