R28W (p.Arg28Trp) variant of UNC80 (Protein unc-80 homolog)
R28W (p.Arg28Trp) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.16
- MetaSVM -0.82
- CADD 29.70
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available