T16N (p.Thr16Asn) variant of POLR1D (P0DPB6)
T16N (p.Thr16Asn) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- gnomAD 13-27622895-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.27
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available