I21V (p.Ile21Val) variant of UNC13D (Protein unc-13 homolog D)
I21V (p.Ile21Val) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- ExAC rs778708063
- TOPMed rs778708063
- gnomAD rs778708063
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.10
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available