Q58L (p.Gln58Leu) variant of BEST1 (Bestrophin-1)
Q58L (p.Gln58Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
Q58L (p.Gln58Leu) variant details
- p.Gln58Leu
- rs281865529
- ClinGen CA227737
- ClinVar RCV000086096
- ClinVar RCV004815142
- Likely pathogenic
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.48
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.31
- ClinVar: Likely pathogenic (Retinal dystrophy)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult… (PMID 10854112)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)