S12C (p.Ser12Cys) variant of TRMU (O75648)
S12C (p.Ser12Cys) in TRMU (O75648) is a missense change. 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.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- ExAC rs761904190
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available