S105L (p.Ser105Leu) variant of ATP7B (Copper-transporting ATPase 2)
S105L (p.Ser105Leu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S105L (p.Ser105Leu) variant details
- p.Ser105Leu
- rs753236073
- ClinGen CA6989588
- ClinVar RCV003074493
- ExAC rs753236073
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.50
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)