Q23P (p.Gln23Pro) variant of UNC80 (Protein unc-80 homolog)
Q23P (p.Gln23Pro) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- gnomAD 2-209772137-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 27.50
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available