L157P (p.Leu157Pro) variant of KRT10 (Keratin, type I cytoskeletal 10)
L157P (p.Leu157Pro) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital reticular ichthyosiform erythroderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
L157P (p.Leu157Pro) variant details
- p.Leu157Pro
- rs2143150768
- ClinGen CA399394753
- ClinVar RCV001730093
- Ensembl rs2143150768
- Pathogenic
- Congenital reticular ichthyosiform erythroderma
- 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: Pathogenic (Congenital reticular ichthyosiform erythroderma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available