S129G (p.Ser129Gly) variant of UNC13D (Protein unc-13 homolog D)
S129G (p.Ser129Gly) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S129G (p.Ser129Gly) variant details
- p.Ser129Gly
- ExAC rs777113713
- gnomAD rs777113713
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.24
- CADD 27.20
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available