S42L (p.Ser42Leu) variant of ATP7A (Copper-transporting ATPase 1)
S42L (p.Ser42Leu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S42L (p.Ser42Leu) variant details
- p.Ser42Leu
- rs149229909
- ClinGen CA10458887
- ClinVar RCV003073426
- ESP rs149229909
- Benign
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.68
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.05
- 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 3.3e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)