A1284V (p.Ala1284Val) variant of ATP7A (Copper-transporting ATPase 1)
A1284V (p.Ala1284Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A1284V (p.Ala1284Val) variant details
- p.Ala1284Val
- NCI-TCGA TCGA novel
- Pathogenic/Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.85
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Menkes kinky-hair syndrome)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available