G21S (p.Gly21Ser) variant of POLR1D (P0DPB6)
G21S (p.Gly21Ser) 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 and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- ExAC rs759527489
- gnomAD rs759527489
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.34
- Population evidence available
- Structural context available