S765T (p.Ser765Thr) variant of ABCA4 (P78363)
S765T (p.Ser765Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Isolated macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S765T (p.Ser765Thr) variant details
- p.Ser765Thr
- rs61749429
- ClinGen CA341277833
- ClinVar RCV001199604
- ClinVar RCV001860547
- Pathogenic
- not provided; Isolated macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- AlphaMissense 0.58
- MetaLR 0.52
- MetaSVM 0.02
- CADD 23.40
- PolyPhen-2 0.27
- ClinVar: Pathogenic (not provided; Isolated macular dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available