D302N (p.Asp302Asn) variant of BEST1 (Bestrophin-1)
D302N (p.Asp302Asn) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D302N (p.Asp302Asn) variant details
- p.Asp302Asn
- rs281865262
- ClinGen CA380843880
- ClinVar RCV000787547
- Ensembl rs281865262
- Pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)