L11P (p.Leu11Pro) variant of ABCA4 (P78363)
L11P (p.Leu11Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs62645946
- ClinGen CA227106
- ClinVar RCV000085568
- ClinVar RCV000779010
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.95
- MetaLR 0.91
- MetaSVM 1.05
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in FFM)
- UniProt: Pathogenic (in FFM)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. (PMID 9781034)
- Cited in: Cone rod dystrophies. (PMID 17270046)