Q1713R (p.Gln1713Arg) variant of ABCA4 (P78363)
Q1713R (p.Gln1713Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q1713R (p.Gln1713Arg) variant details
- p.Gln1713Arg
- rs1659840790
- ClinGen CA916082054
- ClinVar RCV001073820
- ClinVar RCV001269029
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- MetaLR 0.77
- MetaSVM 0.80
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available