V74L (p.Val74Leu) variant of ATP7A (Copper-transporting ATPase 1)
V74L (p.Val74Leu) 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 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- rs782051101
- ClinGen CA10458898
- ClinVar RCV003781255
- ExAC rs782051101
- Benign
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.18
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Benign (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)