D645N (p.Asp645Asn) variant of ABCA4 (P78363)
D645N (p.Asp645Asn) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D645N (p.Asp645Asn) variant details
- p.Asp645Asn
- rs61749418
- ClinGen CA226960
- ClinVar RCV000085447
- ClinVar RCV001074983
- Pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- MetaLR 0.85
- MetaSVM 0.89
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 3.5e-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: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)