R51K (p.Arg51Lys) variant of BEST1 (Bestrophin-1)
R51K (p.Arg51Lys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs914504094
- ClinGen CA222931452
- ClinVar RCV002034996
- gnomAD rs914504094
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available