S63P (p.Ser63Pro) variant of ABCA4 (P78363)
S63P (p.Ser63Pro) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CORD3. The record also includes published literature and structural context.
S63P (p.Ser63Pro) variant details
- p.Ser63Pro
- UniProt VAR 084838
- Uncertain significance
- in CORD3
- Missense
- EBI: Variant of uncertain significance (in CORD3)
- UniProt: Uncertain significance (in CORD3)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)