Q5K (p.Gln5Lys) variant of POLR1D (P0DPB6)
Q5K (p.Gln5Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 13-27621996-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.26
- CADD 23.80
- PolyPhen-2 0.54
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available