Q10H (p.Gln10His) variant of UNC13D (Protein unc-13 homolog D)
Q10H (p.Gln10His) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- rs1316667053
- ClinGen CA401120483
- ClinVar RCV001343071
- TOPMed rs1316667053
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- CADD 15.50
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available