H1118Y (p.His1118Tyr) variant of ABCA4 (P78363)
H1118Y (p.His1118Tyr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
H1118Y (p.His1118Tyr) variant details
- p.His1118Tyr
- rs369440533
- ClinGen CA957956
- ClinVar RCV001235193
- ClinVar RCV004557470
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available