L541P (p.Leu541Pro) variant of ABCA4 (P78363)
L541P (p.Leu541Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L541P (p.Leu541Pro) variant details
- p.Leu541Pro
- rs61751392
- ClinGen CA226911
- ClinVar RCV000008358
- ClinVar RCV000008359
- Conflicting interpretations
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal disorder; Macular dystrophy; Severe early-childhood-onse)
- EBI: Pathogenic (in STGD1, FFM and CORD3)
- UniProt: Pathogenic (in STGD1, FFM and CORD3)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PMID 10958761)