V103I (p.Val103Ile) variant of UNC13D (Protein unc-13 homolog D)
V103I (p.Val103Ile) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V103I (p.Val103Ile) variant details
- p.Val103Ile
- TOPMed rs1185941307
- gnomAD rs1185941307
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- CADD 20.30
- PolyPhen-2 0.41
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available