V860A (p.Val860Ala) variant of ABCA4 (P78363)
V860A (p.Val860Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
V860A (p.Val860Ala) variant details
- p.Val860Ala
- rs1660936779
- ClinGen CA341276787
- ClinVar RCV001199606
- Ensembl rs1660936779
- Pathogenic
- Isolated macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.36
- MetaLR 0.63
- MetaSVM 0.42
- PolyPhen-2 0.53
- SIFT 0.02
- MutPred 0.51
- ClinVar: Pathogenic (Isolated macular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available