L2241P (p.Leu2241Pro) variant of ABCA4 (P78363)
L2241P (p.Leu2241Pro) 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 0.79 / 1. The record also includes structural context.
L2241P (p.Leu2241Pro) variant details
- p.Leu2241Pro
- rs1659051255
- ClinGen CA341276236
- ClinVar RCV001038128
- ClinVar RCV006272305
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- MutPred 0.79
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Structural context available