G139V (p.Gly139Val) variant of UNC13D (Protein unc-13 homolog D)
G139V (p.Gly139Val) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G139V (p.Gly139Val) variant details
- p.Gly139Val
- TOPMed rs913613570
- gnomAD rs913613570
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.22
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available