L485F (p.Leu485Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
L485F (p.Leu485Phe) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Keratosis palmoplantaris striata 3; Annular epidermolytic ichthyos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L485F (p.Leu485Phe) variant details
- p.Leu485Phe
- rs1555171247
- ClinGen CA384962234
- ClinVar RCV000498290
- ClinVar RCV002496908
- Pathogenic/Likely pathogenic
- not provided; Keratosis palmoplantaris striata 3; Annular epidermolytic ichthyos
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.76
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Keratosis palmoplantaris striata 3; Annular epider)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available