V9G (p.Val9Gly) variant of BEST1 (Bestrophin-1)
V9G (p.Val9Gly) 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 0.94 / 1. The record also includes published literature and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- rs281865205
- ClinGen CA380831072
- ClinVar RCV000664327
- Ensembl rs281865205
- Likely pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- 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)