I40T (p.Ile40Thr) variant of UNC13D (Protein unc-13 homolog D)
I40T (p.Ile40Thr) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- TOPMed rs2064964540
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.64
- Population evidence available
- Structural context available