G753V (p.Gly753Val) variant of UNC13D (Protein unc-13 homolog D)
G753V (p.Gly753Val) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G753V (p.Gly753Val) variant details
- p.Gly753Val
- rs1418183549
- ClinGen CA401088127
- ClinVar RCV002264553
- gnomAD rs1418183549
- Likely pathogenic
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 21.40
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Likely pathogenic (Autoinflammatory syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available