H69Y (p.His69Tyr) variant of UNC13D (Protein unc-13 homolog D)
H69Y (p.His69Tyr) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- rs748571320
- ExAC rs748571320
- TOPMed rs748571320
- gnomAD rs748571320
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.05
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available