S637L (p.Ser637Leu) variant of ATP7A (Copper-transporting ATPase 1)
S637L (p.Ser637Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature.
S637L (p.Ser637Leu) variant details
- p.Ser637Leu
- rs151340631
- ClinGen CA256065
- ClinVar RCV000012549
- ClinVar RCV000195239
- Pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.11
- MetaLR 0.79
- MetaSVM 0.61
- PolyPhen-2 0.01
- SIFT 0.40
- EVE 0.19
- ClinVar: Pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic (in OHS)
- UniProt: Pathogenic (in OHS)
- Cited in: Identification of point mutations in 41 unrelated patients affected with Menkes disease. (PMID 8981948)
- Cited in: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. (PMID 9246006)