P43S (p.Pro43Ser) variant of UNC13D (Protein unc-13 homolog D)
P43S (p.Pro43Ser) in UNC13D (Protein unc-13 homolog D) is a missense change. 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.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- ExAC rs775174271
- gnomAD rs775174271
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.08
- CADD 9.76
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available