L844R (p.Leu844Arg) variant of ABCA4 (P78363)
L844R (p.Leu844Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; Cone-rod dystrophy 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L844R (p.Leu844Arg) variant details
- p.Leu844Arg
- rs1660938577
- ClinGen CA341276880
- ClinVar RCV001202579
- ClinVar RCV004789470
- Likely pathogenic
- Retinal dystrophy; Cone-rod dystrophy 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.84
- MetaLR 0.76
- MetaSVM 0.67
- CADD 23.70
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Likely pathogenic (Retinal dystrophy; Cone-rod dystrophy 3; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available