S73T (p.Ser73Thr) variant of UNC80 (Protein unc-80 homolog)
S73T (p.Ser73Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
S73T (p.Ser73Thr) variant details
- p.Ser73Thr
- rs1022019762
- ClinGen CA64645075
- ClinVar RCV001888589
- TOPMed rs1022019762
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- MetaLR 0.12
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available