G13A (p.Gly13Ala) variant of POLR1D (P0DPB6)
G13A (p.Gly13Ala) 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, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 13-27622886-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.33
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available