H2032R (p.His2032Arg) variant of ABCA4 (P78363)
H2032R (p.His2032Arg) 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; Retinal dystrophy; Retinitis pigmentosa. 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.
H2032R (p.His2032Arg) variant details
- p.His2032Arg
- rs1242866408
- ClinGen CA341279008
- ClinVar RCV001075791
- ClinVar RCV001235229
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.99
- MetaLR 0.92
- MetaSVM 1.07
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Retinitis pigmentosa)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- 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)