G978S (p.Gly978Ser) variant of ABCA4 (P78363)
G978S (p.Gly978Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G978S (p.Gly978Ser) variant details
- p.Gly978Ser
- rs61749452
- ClinGen CA26839909
- ClinVar RCV001353029
- ClinVar RCV001871909
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available