L41P (p.Leu41Pro) variant of BEST1 (Bestrophin-1)
L41P (p.Leu41Pro) 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 Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs121918288
- ClinGen CA115728
- ClinVar RCV000002866
- ClinVar RCV000086085
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.63
- CADD 16.90
- PolyPhen-2 0.77
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in VMD2 and ARB)
- UniProt: Pathogenic (in VMD2 and ARB)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). (PMID 14517959)
- Cited in: Biallelic mutation of BEST1 causes a distinct retinopathy in humans. (PMID 18179881)