G65E (p.Gly65Glu) variant of ABCA4 (P78363)
G65E (p.Gly65Glu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G65E (p.Gly65Glu) variant details
- p.Gly65Glu
- rs62654395
- ClinGen CA226964
- ClinVar RCV000085451
- ClinVar RCV000132588
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.98
- MetaLR 1.00
- MetaSVM 0.92
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PMID 10958761)
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)