A801T (p.Ala801Thr) variant of ABCA4 (P78363)
A801T (p.Ala801Thr) 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; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A801T (p.Ala801Thr) variant details
- p.Ala801Thr
- rs374410829
- ClinGen CA26843455
- ClinVar RCV001073511
- ClinVar RCV001353035
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- MetaLR 0.86
- MetaSVM 0.88
- CADD 25.80
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; not provided; St)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available