A26T (p.Ala26Thr) variant of POLR1D (P0DPB6)
A26T (p.Ala26Thr) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD 13-27622924-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.22
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available