V33L (p.Val33Leu) variant of ATP7A (Copper-transporting ATPase 1)
V33L (p.Val33Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.34 / 1. The record also includes published literature and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs2077548355
- ClinGen CA413597821
- ClinVar RCV001559247
- ClinVar RCV001559248
- Uncertain significance
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.44
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)