R1640Q (p.Arg1640Gln) variant of ABCA4 (P78363)
R1640Q (p.Arg1640Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R1640Q (p.Arg1640Gln) variant details
- p.Arg1640Gln
- rs61751403
- ClinGen CA227254
- cosmic curated COSV64671
- ClinVar RCV000085684
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.77
- MetaLR 0.77
- MetaSVM 0.04
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1, FFM and CORD3)
- UniProt: Pathogenic (in STGD1, FFM and CORD3)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (PMID 10711710)
- Cited in: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR… (PMID 11379881)