E3G (p.Glu3Gly) variant of POLR1D (P0DPB6)
E3G (p.Glu3Gly) 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.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 13-27621991-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available