G1961E (p.Gly1961Glu) variant of ABCA4 (P78363)
G1961E (p.Gly1961Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G1961E (p.Gly1961Glu) variant details
- p.Gly1961Glu
- rs1800553
- ClinGen CA119132
- cosmic curated COSV64673
- ClinVar RCV000008339
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- MetaLR 0.70
- MetaSVM 0.72
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Pathogenic (in STGD1, FFM and CORD3)
- UniProt: Pathogenic (in STGD1, FFM and CORD3)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.079)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (PMID 10711710)