I40L (p.Ile40Leu) variant of UNC13D (Protein unc-13 homolog D)
I40L (p.Ile40Leu) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I40L (p.Ile40Leu) variant details
- p.Ile40Leu
- ExAC rs760660823
- gnomAD rs760660823
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.05
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available