S21P (p.Ser21Pro) variant of ATP7A (Copper-transporting ATPase 1)
S21P (p.Ser21Pro) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Menkes kinky-hair syndrome; X-linked distal spinal muscular atrophy type 3; Cuti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- rs2522252303
- ClinGen CA413597736
- ClinVar RCV002923050
- Uncertain significance
- Menkes kinky-hair syndrome; X-linked distal spinal muscular atrophy type 3; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; X-linked distal spinal muscular atro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)