H1838R (p.His1838Arg) variant of ABCA4 (P78363)
H1838R (p.His1838Arg) 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 0.84 / 1. The record also includes structural context.
H1838R (p.His1838Arg) variant details
- p.His1838Arg
- rs886044752
- ClinGen CA10602417
- ClinVar RCV000408470
- ClinVar RCV001854787
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available