P1088R (p.Pro1088Arg) variant of ABCA4 (P78363)
P1088R (p.Pro1088Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
P1088R (p.Pro1088Arg) variant details
- p.Pro1088Arg
- rs1660531525
- ClinGen CA341292138
- ClinVar RCV001591918
- ClinVar RCV001882714
- Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available