I1846T (p.Ile1846Thr) variant of ABCA4 (P78363)
I1846T (p.Ile1846Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I1846T (p.Ile1846Thr) variant details
- p.Ile1846Thr
- rs61750575
- ClinGen CA227317
- cosmic curated COSV64672
- ClinVar RCV000085737
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.95
- MetaLR 0.72
- MetaSVM 0.61
- CADD 28.70
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)