S27C (p.Ser27Cys) variant of TRDN (Triadin)
S27C (p.Ser27Cys) in TRDN (Triadin) 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 0.39 / 1. The record also includes population frequency data and structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- ExAC rs770488451
- gnomAD rs770488451
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- CADD 25.20
- PolyPhen-2 0.62
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available