R51L (p.Arg51Leu) variant of UNC80 (Protein unc-80 homolog)
R51L (p.Arg51Leu) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- TOPMed rs1359174506
- gnomAD rs1359174506
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- MetaLR 0.26
- MetaSVM -0.62
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available