S48C (p.Ser48Cys) variant of UNC13D (Protein unc-13 homolog D)
S48C (p.Ser48Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- TOPMed rs1349079353
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available