K15E (p.Lys15Glu) variant of POLR1D (P0DPB6)
K15E (p.Lys15Glu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- gnomAD 13-27622891-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.39
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available