V77E (p.Val77Glu) variant of ABCA4 (P78363)
V77E (p.Val77Glu) in ABCA4 (P78363) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V77E (p.Val77Glu) variant details
- p.Val77Glu
- rs61748527
- ClinGen CA226991
- ClinVar RCV000085472
- UniProt VAR 012501
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.70
- MetaLR 0.85
- MetaSVM 0.64
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)