M5I (p.Met5Ile) variant of ATP7A (Copper-transporting ATPase 1)
M5I (p.Met5Ile) in ATP7A (Copper-transporting ATPase 1) 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; Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- rs781952393
- ClinGen CA10458877
- ClinVar RCV000821440
- ClinVar RCV002318870
- Conflicting interpretations
- Inborn genetic diseases; not provided; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.28
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Menkes kinky-hair syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAUR population (allele frequency 0.091)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)