C39R (p.Cys39Arg) variant of POLR1D (P0DPB6)
C39R (p.Cys39Arg) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C39R (p.Cys39Arg) variant details
- p.Cys39Arg
- gnomAD 13-27622963-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.73
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available