G68C (p.Gly68Cys) variant of UNC13D (Protein unc-13 homolog D)
G68C (p.Gly68Cys) 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 0.81 / 1. The record also includes population frequency data and structural context.
G68C (p.Gly68Cys) variant details
- p.Gly68Cys
- Ensembl rs2064961883
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.82
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available