A33S (p.Ala33Ser) variant of POLR1D (P0DPB6)
A33S (p.Ala33Ser) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- gnomAD 13-27622945-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available