H2128R (p.His2128Arg) variant of ABCA4 (P78363)
H2128R (p.His2128Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H2128R (p.His2128Arg) variant details
- p.His2128Arg
- rs61750651
- ClinGen CA227399
- ClinVar RCV000085815
- ClinVar RCV004562251
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.98
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)