M67V (p.Met67Val) variant of ATP7B (Copper-transporting ATPase 2)
M67V (p.Met67Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M67V (p.Met67Val) variant details
- p.Met67Val
- rs2547825222
- ClinGen CA388045030
- ClinVar RCV003324375
- ClinVar RCV005012871
- Uncertain significance
- Wilson disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 19.90
- PolyPhen-2 0.21
- SIFT 0.06
- ClinVar: Uncertain significance (Wilson disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)