G2041D (p.Gly2041Asp) variant of ABCA4 (P78363)
G2041D (p.Gly2041Asp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; Severe early-childhood-onset retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G2041D (p.Gly2041Asp) variant details
- p.Gly2041Asp
- rs1462350577
- ClinGen CA341278911
- ClinVar RCV001352992
- ClinVar RCV002548492
- Pathogenic/Likely pathogenic
- Stargardt disease; Severe early-childhood-onset retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.07
- CADD 25.50
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available