G72V (p.Gly72Val) variant of ABCA4 (P78363)
G72V (p.Gly72Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G72V (p.Gly72Val) variant details
- p.Gly72Val
- rs2101162548
- ClinGen CA341285532
- ClinVar RCV001880561
- UniProt VAR 084839
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and… (PMID 10090887)