A1773V (p.Ala1773Val) variant of ABCA4 (P78363)
A1773V (p.Ala1773Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A1773V (p.Ala1773Val) variant details
- p.Ala1773Val
- rs760549861
- ClinGen CA957302
- NCI-TCGA Cosmic COSV6467
- cosmic curated COSV64670
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.79
- MetaLR 0.72
- MetaSVM 0.53
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)
- 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)