D1102Y (p.Asp1102Tyr) variant of ABCA4 (P78363)
D1102Y (p.Asp1102Tyr) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D1102Y (p.Asp1102Tyr) variant details
- p.Asp1102Tyr
- rs138641544
- ClinGen CA957987
- ClinVar RCV001970179
- ClinVar RCV004587272
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- MetaLR 0.90
- MetaSVM 0.97
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in dbSNP:rs138641544)
- UniProt: Pathogenic (in dbSNP:rs138641544)
- Most common in the East Asian population (allele frequency 0.00039)
- 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: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)