G1771R (p.Gly1771Arg) variant of ABCA4 (P78363)
G1771R (p.Gly1771Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G1771R (p.Gly1771Arg) variant details
- p.Gly1771Arg
- rs374015407
- ClinGen CA26842500
- ClinVar RCV001353043
- ClinVar RCV001366508
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.88
- MetaLR 0.88
- MetaSVM 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Retinal dystroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available