L210Q (p.Leu210Gln) variant of ABCA4 (P78363)
L210Q (p.Leu210Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L210Q (p.Leu210Gln) variant details
- p.Leu210Gln
- rs1246844424
- ClinGen CA341289668
- ClinVar RCV001074408
- ClinVar RCV002554713
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.88
- MetaLR 0.92
- MetaSVM 1.06
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)