S54C (p.Ser54Cys) variant of POLR1D (P0DPB6)
S54C (p.Ser54Cys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- ExAC rs749563986
- gnomAD rs749563986
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.47
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available