V144I (p.Val144Ile) variant of UNC13D (Protein unc-13 homolog D)
V144I (p.Val144Ile) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
V144I (p.Val144Ile) variant details
- p.Val144Ile
- TOPMed rs987855651
- gnomAD rs987855651
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0527
- REVEL 0.01
- CADD 6.41
- PolyPhen-2 0.08
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available