A1881G (p.Ala1881Gly) variant of ABCA4 (P78363)
A1881G (p.Ala1881Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
A1881G (p.Ala1881Gly) variant details
- p.Ala1881Gly
- rs369973540
- ClinGen CA341280834
- ClinVar RCV001257849
- ESP rs369973540
- Pathogenic
- Autosomal recessive retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.24
- MetaLR 0.78
- MetaSVM 0.67
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.50
- ClinVar: Pathogenic (Autosomal recessive retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available