S17L (p.Ser17Leu) variant of POLR1D (P0DPB6)
S17L (p.Ser17Leu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- gnomAD 13-27622898-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.41
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available