R2107H (p.Arg2107His) variant of ABCA4 (P78363)
R2107H (p.Arg2107His) 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.
R2107H (p.Arg2107His) variant details
- p.Arg2107His
- rs62642564
- ClinGen CA227389
- cosmic curated COSV64672
- ClinVar RCV000085807
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.88
- MetaLR 0.93
- MetaSVM 1.05
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and… (PMID 11384574)