L795F (p.Leu795Phe) variant of ATP7B (Copper-transporting ATPase 2)
L795F (p.Leu795Phe) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 5; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
L795F (p.Leu795Phe) variant details
- p.Leu795Phe
- rs751710854
- ClinGen CA273992
- ClinVar RCV000169151
- ClinVar RCV004813069
- Pathogenic/Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 5; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.20
- ClinVar: Pathogenic/Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 5; Wilson di)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Mutational analysis of ATP7B in north Chinese patients with Wilson disease. (PMID 23235335)
- Cited in: Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype… (PMID 9311736)