G9A (p.Gly9Ala) variant of UNC80 (Protein unc-80 homolog)
G9A (p.Gly9Ala) 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 0.48 / 1. The record also includes population frequency data.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs1256509145
- ClinGen CA350124178
- ClinVar RCV001907447
- TOPMed rs1256509145
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.05
- MetaSVM -1.08
- CADD 21.50
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)