T1981R (p.Thr1981Arg) variant of ABCA4 (P78363)
T1981R (p.Thr1981Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; Age related macular degeneration 2; Severe early-childhood-on. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
T1981R (p.Thr1981Arg) variant details
- p.Thr1981Arg
- rs752147871
- ClinGen CA10602412
- ClinVar RCV000408493
- ClinVar RCV001197194
- Likely pathogenic
- Retinal dystrophy; Age related macular degeneration 2; Severe early-childhood-on
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.55
- MetaLR 0.81
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Likely pathogenic (Retinal dystrophy; Age related macular degeneration 2; Severe ea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available