H1838Y (p.His1838Tyr) variant of ABCA4 (P78363)
H1838Y (p.His1838Tyr) 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; not provided; Retinitis pigmentosa 40. 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.
H1838Y (p.His1838Tyr) variant details
- p.His1838Tyr
- rs62642562
- ClinGen CA227315
- ClinVar RCV000085735
- ClinVar RCV001075475
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 40
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.91
- MetaLR 0.81
- MetaSVM 0.82
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 40)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. (PMID 33375396)