T1019A (p.Thr1019Ala) variant of ABCA4 (P78363)
T1019A (p.Thr1019Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related retinopathy; Severe early-childhood-onset retinal dystrophy; Age r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T1019A (p.Thr1019Ala) variant details
- p.Thr1019Ala
- rs61749457
- ClinGen CA227075
- ClinVar RCV000085543
- ClinVar RCV004796009
- Pathogenic/Likely pathogenic
- ABCA4-related retinopathy; Severe early-childhood-onset retinal dystrophy; Age r
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related retinopathy; Severe early-childhood-onset retinal)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)