M1882I (p.Met1882Ile) variant of ABCA4 (P78363)
M1882I (p.Met1882Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M1882I (p.Met1882Ile) variant details
- p.Met1882Ile
- rs752160946
- ClinGen CA957184
- ClinVar RCV003568590
- ExAC rs752160946
- Pathogenic
- ABCA4-related retinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.84
- MetaLR 0.80
- MetaSVM 0.80
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CORD3)
- UniProt: Pathogenic (in CORD3)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- 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: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)