C230S (p.Cys230Ser) variant of ABCA4 (P78363)
C230S (p.Cys230Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Age related macular degeneration 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C230S (p.Cys230Ser) variant details
- p.Cys230Ser
- rs1057518767
- ClinGen CA16043373
- ClinVar RCV000415009
- ClinVar RCV001199212
- Pathogenic
- not provided; Age related macular degeneration 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.88
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (not provided; Age related macular degeneration 2)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)