V9A (p.Val9Ala) variant of BEST1 (Bestrophin-1)
V9A (p.Val9Ala) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs281865205
- ClinGen CA227752
- ClinVar RCV000086111
- UniProt VAR 000831
- Pathogenic
- not provided
- 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: Pathogenic (not provided)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Identification of the gene responsible for Best macular dystrophy. (PMID 9662395)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)