P457R (p.Pro457Arg) variant of BEST1 (Bestrophin-1)
P457R (p.Pro457Arg) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
P457R (p.Pro457Arg) variant details
- p.Pro457Arg
- rs1554964287
- ClinGen CA380848684
- ClinVar RCV000625654
- Ensembl rs1554964287
- Pathogenic
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.10
- MetaLR 0.84
- MetaSVM 0.59
- PolyPhen-2 0.81
- SIFT 0.04
- MutPred 0.32
- ClinVar: Pathogenic (Autosomal recessive bestrophinopathy)
- 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)