C81S (p.Cys81Ser) variant of ABCA4 (P78363)
C81S (p.Cys81Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
C81S (p.Cys81Ser) variant details
- p.Cys81Ser
- rs1570433137
- ClinGen CA341285471
- ClinVar RCV001002848
- Ensembl rs1570433137
- Likely pathogenic
- Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.80
- ClinVar: Likely pathogenic (Stargardt disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available