L157R (p.Leu157Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
L157R (p.Leu157Arg) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Annular epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L157R (p.Leu157Arg) variant details
- p.Leu157Arg
- rs2143150768
- ClinGen CA399394751
- ClinVar RCV002283888
- Likely pathogenic
- Annular epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Annular epidermolytic ichthyosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available