H46R (p.His46Arg) variant of UNC13D (Protein unc-13 homolog D)
H46R (p.His46Arg) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- TOPMed rs1321057434
- gnomAD rs1321057434
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.14
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available