A1762D (p.Ala1762Asp) variant of ABCA4 (P78363)
A1762D (p.Ala1762Asp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A1762D (p.Ala1762Asp) variant details
- p.Ala1762Asp
- rs121909206
- ClinGen CA119142
- ClinVar RCV000008367
- ClinVar RCV000008368
- Pathogenic
- Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.86
- MetaLR 0.71
- MetaSVM 0.54
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystr)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (PMID 18285826)