H90Q (p.His90Gln) variant of UNC13D (Protein unc-13 homolog D)
H90Q (p.His90Gln) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
H90Q (p.His90Gln) variant details
- p.His90Gln
- ExAC rs761478169
- TOPMed rs761478169
- gnomAD rs761478169
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- CADD 6.97
- PolyPhen-2 0.00
- SIFT 0.66
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available