T18A (p.Thr18Ala) variant of ATP7A (Copper-transporting ATPase 1)
T18A (p.Thr18Ala) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs1557229679
- ClinGen CA413597715
- ClinVar RCV003799167
- gnomAD rs1557229679
- Likely benign
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)