H46N (p.His46Asn) variant of UNC13D (Protein unc-13 homolog D)
H46N (p.His46Asn) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H46N (p.His46Asn) variant details
- p.His46Asn
- 1000Genomes rs145293891
- ESP rs145293891
- ExAC rs145293891
- TOPMed rs145293891
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.15
- CADD 18.90
- PolyPhen-2 0.24
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available