T1979I (p.Thr1979Ile) variant of ABCA4 (P78363)
T1979I (p.Thr1979Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
T1979I (p.Thr1979Ile) variant details
- p.Thr1979Ile
- rs61753037
- ClinGen CA227358
- ClinVar RCV000085779
- ClinVar RCV000408461
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available