F14L (p.Phe14Leu) variant of UNC13D (Protein unc-13 homolog D)
F14L (p.Phe14Leu) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- ExAC rs776563028
- TOPMed rs776563028
- gnomAD rs776563028
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available