P274R (p.Pro274Arg) variant of BEST1 (Bestrophin-1)
P274R (p.Pro274Arg) 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 disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P274R (p.Pro274Arg) variant details
- p.Pro274Arg
- rs62639270
- ClinGen CA6040862
- ClinVar RCV001055473
- ClinVar RCV004536108
- Pathogenic/Likely pathogenic
- Retinal disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.95
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available