H1838N (p.His1838Asn) variant of ABCA4 (P78363)
H1838N (p.His1838Asn) 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; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H1838N (p.His1838Asn) variant details
- p.His1838Asn
- rs62642562
- ClinGen CA10602418
- ClinVar RCV000408514
- ClinVar RCV003556287
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.71
- MetaLR 0.62
- MetaSVM 0.03
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)