L20V (p.Leu20Val) variant of BEST1 (Bestrophin-1)
L20V (p.Leu20Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- rs1591266379
- ClinGen CA380831385
- ClinVar RCV000787542
- Ensembl rs1591266379
- Pathogenic
- Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.46
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Vitelliform macular dystrophy 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)