L21V (p.Leu21Val) variant of BEST1 (Bestrophin-1)
L21V (p.Leu21Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs281865212
- ClinGen CA227786
- ClinVar RCV000086143
- ClinVar RCV005252757
- Pathogenic/Likely pathogenic
- not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.91
- CADD 20.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Vitelliform macular dystrophy 2)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)