P297S (p.Pro297Ser) variant of BEST1 (Bestrophin-1)
P297S (p.Pro297Ser) 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 BEST1-related dominant retinopathy; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P297S (p.Pro297Ser) variant details
- p.Pro297Ser
- rs1805143
- UniProt VAR 010485
- ExAC rs1805143
- gnomAD rs1805143
- Pathogenic/Likely pathogenic
- BEST1-related dominant retinopathy; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.89
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (BEST1-related dominant retinopathy; Retinal dystrophy; not provi)
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. (PMID 10453731)
- Cited in: Phenotype and genotype correlations in two best families. (PMID 13129869)