S48F (p.Ser48Phe) variant of UNC13D (Protein unc-13 homolog D)
S48F (p.Ser48Phe) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- TOPMed rs1349079353
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.15
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available