D304N (p.Asp304Asn) variant of BEST1 (Bestrophin-1)
D304N (p.Asp304Asn) 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 0.94 / 1. The record also includes published literature and structural context.
D304N (p.Asp304Asn) variant details
- p.Asp304Asn
- rs1554963095
- ClinGen CA380843918
- ClinVar RCV000590969
- Ensembl rs1554963095
- Pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Vitelliform macular dystrophy 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)