D586E (p.Asp586Glu) variant of ABCA4 (P78363)
D586E (p.Asp586Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
D586E (p.Asp586Glu) variant details
- p.Asp586Glu
- rs1570393727
- ClinGen CA341279872
- ClinVar RCV001325162
- Ensembl rs1570393727
- Pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.79
- MetaLR 0.86
- MetaSVM 0.86
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available