T1415P (p.Thr1415Pro) variant of ABCA4 (P78363)
T1415P (p.Thr1415Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
T1415P (p.Thr1415Pro) variant details
- p.Thr1415Pro
- rs1571264551
- ClinGen CA341286059
- ClinVar RCV000787499
- TOPMed rs1571264551
- Likely pathogenic
- Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.18
- MetaLR 0.84
- MetaSVM 0.68
- PolyPhen-2 0.99
- SIFT 0.07
- MutPred 0.46
- ClinVar: Likely pathogenic (Stargardt disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available