H65Q (p.His65Gln) variant of UNC13D (Protein unc-13 homolog D)
H65Q (p.His65Gln) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H65Q (p.His65Gln) variant details
- p.His65Gln
- TOPMed rs1036402374
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.30
- CADD 24.30
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available