I50F (p.Ile50Phe) variant of ATP7A (Copper-transporting ATPase 1)
I50F (p.Ile50Phe) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair. The record also includes structural context.
I50F (p.Ile50Phe) variant details
- p.Ile50Phe
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- Uncertain significance
- not provided; X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair
- Missense
- ClinVar: Uncertain significance (not provided; X-linked distal spinal muscular atrophy type 3; Me)
- UniProt: Uncertain significance
- Structural context available