G1862S (p.Gly1862Ser) variant of ABCA4 (P78363)
G1862S (p.Gly1862Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G1862S (p.Gly1862Ser) variant details
- p.Gly1862Ser
- rs1659538637
- ClinGen CA341280970
- ClinVar RCV001075630
- ClinVar RCV001564605
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.66
- AlphaMissense 0.57
- MetaLR 0.89
- MetaSVM 1.00
- CADD 34.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available