G70D (p.Gly70Asp) variant of ATP7A (Copper-transporting ATPase 1)
G70D (p.Gly70Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Cutis laxa, X-linked; Menkes kinky-hair syndrome; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- rs782415705
- ClinGen CA10458896
- ClinVar RCV001510523
- ExAC rs782415705
- Benign
- Cutis laxa, X-linked; Menkes kinky-hair syndrome; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.96
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Benign (Cutis laxa, X-linked; Menkes kinky-hair syndrome; X-linked dista)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.001)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)