A32T (p.Ala32Thr) variant of POLR1D (P0DPB6)
A32T (p.Ala32Thr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD rs1311004441
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.14
- Population evidence available
- Structural context available