G125A (p.Gly125Ala) variant of UNC13D (Protein unc-13 homolog D)
G125A (p.Gly125Ala) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G125A (p.Gly125Ala) variant details
- p.Gly125Ala
- gnomAD rs2064958929
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.23
- CADD 23.80
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available