V30F (p.Val30Phe) variant of POLR1D (P0DPB6)
V30F (p.Val30Phe) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V30F (p.Val30Phe) variant details
- p.Val30Phe
- gnomAD 13-27622936-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.52
- CADD 27.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available