T991M (p.Thr991Met) variant of ATP7B (Copper-transporting ATPase 2)
T991M (p.Thr991Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T991M (p.Thr991Met) variant details
- p.Thr991Met
- rs41292782
- ClinGen CA090896
- ClinVar RCV000029361
- ClinVar RCV000255583
- Conflicting interpretations
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (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: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. (PMID 16088907)
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (PMID 17949296)