L2033P (p.Leu2033Pro) variant of ABCA4 (P78363)
L2033P (p.Leu2033Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinal dystrophy; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
L2033P (p.Leu2033Pro) variant details
- p.Leu2033Pro
- rs1553186896
- ClinGen CA341278997
- ClinVar RCV000504985
- ClinVar RCV004817733
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available