D301H (p.Asp301His) variant of BEST1 (Bestrophin-1)
D301H (p.Asp301His) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D301H (p.Asp301His) variant details
- p.Asp301His
- rs281865259
- ClinGen CA380843856
- ClinVar RCV002287779
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)