L29R (p.Leu29Arg) variant of ABCA4 (P78363)
L29R (p.Leu29Arg) 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; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- rs886044719
- ClinGen CA10602458
- ClinVar RCV000408508
- ClinVar RCV004816379
- Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.57
- MetaLR 0.80
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available