L5P (p.Leu5Pro) variant of UNC13D (Protein unc-13 homolog D)
L5P (p.Leu5Pro) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD rs1322153234
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.34
- CADD 17.00
- PolyPhen-2 0.19
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available