R37T (p.Arg37Thr) variant of POLR1D (P0DPB6)
R37T (p.Arg37Thr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R37T (p.Arg37Thr) variant details
- p.Arg37Thr
- gnomAD 13-27622958-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available