P80L (p.Pro80Leu) variant of ATP7A (Copper-transporting ATPase 1)
P80L (p.Pro80Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Ehlers-Danlos syndrome; Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs782602356
- ClinGen CA10458901
- ClinVar RCV001514642
- ClinVar RCV002279500
- Benign/Likely benign
- Inborn genetic diseases; Ehlers-Danlos syndrome; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.56
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.07
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Ehlers-Danlos syndrome; Menkes kinky-ha)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PJL population (allele frequency 0.0071)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)