A48T (p.Ala48Thr) variant of ATP7A (Copper-transporting ATPase 1)
A48T (p.Ala48Thr) 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 not provided; Cutis laxa, X-linked; 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, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- rs1557231562
- ClinGen CA413598781
- ClinVar RCV000521317
- ClinVar RCV003766966
- Conflicting interpretations
- not provided; Cutis laxa, X-linked; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.78
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cutis laxa, X-linked; Menkes kinky-hair syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)