R104G (p.Arg104Gly) variant of UNC13D (Protein unc-13 homolog D)
R104G (p.Arg104Gly) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R104G (p.Arg104Gly) variant details
- p.Arg104Gly
- TOPMed rs1370559593
- gnomAD rs1370559593
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.06
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available