T1019M (p.Thr1019Met) variant of ABCA4 (P78363)
T1019M (p.Thr1019Met) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T1019M (p.Thr1019Met) variant details
- p.Thr1019Met
- rs201855602
- ClinGen CA958052
- ClinVar RCV000412846
- ClinVar RCV001002835
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.08
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)
- Cited in: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification… (PMID 19028736)