A19T (p.Ala19Thr) variant of POLR1D (P0DPB6)
A19T (p.Ala19Thr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1956238400
- gnomAD 13-27648383-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available