K20E (p.Lys20Glu) variant of UNC13D (Protein unc-13 homolog D)
K20E (p.Lys20Glu) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K20E (p.Lys20Glu) variant details
- p.Lys20Glu
- TOPMed rs2064970921
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.27
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available