L1138P (p.Leu1138Pro) variant of ABCA4 (P78363)
L1138P (p.Leu1138Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L1138P (p.Leu1138Pro) variant details
- p.Leu1138Pro
- rs1287053724
- ClinGen CA341290944
- ClinVar RCV001074053
- ClinVar RCV001300385
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.97
- MetaLR 0.91
- MetaSVM 1.03
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available