C39S (p.Cys39Ser) variant of POLR1D (P0DPB6)
C39S (p.Cys39Ser) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C39S (p.Cys39Ser) variant details
- p.Cys39Ser
- gnomAD 13-27622963-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.71
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available