C46S (p.Cys46Ser) variant of UNC80 (Protein unc-80 homolog)
C46S (p.Cys46Ser) 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 0.64 / 1. The record also includes population frequency data and structural context.
C46S (p.Cys46Ser) variant details
- p.Cys46Ser
- rs1320264327
- ClinGen CA350124723
- ClinVar RCV002825586
- gnomAD rs1320264327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.24
- MetaSVM -0.63
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available