N41S (p.Asn41Ser) variant of ATP7B (Copper-transporting ATPase 2)
N41S (p.Asn41Ser) 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 Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- rs201738967
- ClinGen CA271166
- cosmic curated COSV54436
- ClinVar RCV000145251
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.20
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. (PMID 15024742)
- Cited in: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of… (PMID 17919502)