R25G (p.Arg25Gly) variant of BEST1 (Bestrophin-1)
R25G (p.Arg25Gly) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VMD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- ExAC rs281865214
- TOPMed rs281865214
- gnomAD rs281865214
- Pathogenic
- in VMD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.83
- CADD 21.10
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available