R2040Q (p.Arg2040Gln) variant of ABCA4 (P78363)
R2040Q (p.Arg2040Gln) 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; Cone-rod dystrophy 3; Severe early-childhood-onset retinal dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R2040Q (p.Arg2040Gln) variant details
- p.Arg2040Gln
- rs148460146
- ClinGen CA232815
- cosmic curated COSV64672
- ClinVar RCV000132592
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Cone-rod dystrophy 3; Severe early-childhood-onset retinal dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.91
- MetaLR 0.91
- MetaSVM 1.05
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Cone-rod dystrophy 3; Severe early-childhood-)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)