H69R (p.His69Arg) variant of UNC13D (Protein unc-13 homolog D)
H69R (p.His69Arg) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- TOPMed rs1249649287
- gnomAD rs1249649287
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available