G2041S (p.Gly2041Ser) variant of ABCA4 (P78363)
G2041S (p.Gly2041Ser) 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 0.88 / 1. The record also includes population frequency data and structural context.
G2041S (p.Gly2041Ser) variant details
- p.Gly2041Ser
- rs2101000357
- ClinGen CA341278913
- ClinVar RCV001916270
- Ensembl rs2101000357
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.06
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available