R51Q (p.Arg51Gln) variant of UNC80 (Protein unc-80 homolog)
R51Q (p.Arg51Gln) in UNC80 (Protein unc-80 homolog) 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 0.66 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs1359174506
- ClinGen CA350130560
- ClinVar RCV002001624
- TOPMed rs1359174506
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.25
- MetaSVM -0.64
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available