F47L (p.Phe47Leu) variant of UNC13D (Protein unc-13 homolog D)
F47L (p.Phe47Leu) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- ExAC rs745527375
- gnomAD rs745527375
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- REVEL 0.06
- CADD 6.11
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available