L55F (p.Leu55Phe) variant of UNC13D (Protein unc-13 homolog D)
L55F (p.Leu55Phe) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- ExAC rs760475083
- gnomAD rs760475083
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.62
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available