G13R (p.Gly13Arg) variant of POLR1D (P0DPB6)
G13R (p.Gly13Arg) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- gnomAD 13-27622885-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.37
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available