P3R (p.Pro3Arg) variant of ATP7A (Copper-transporting ATPase 1)
P3R (p.Pro3Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs782355906
- ClinGen CA10458876
- ClinVar RCV003072370
- ClinVar RCV005608868
- Likely benign
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.23
- CADD 2.49
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Likely benign (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)