L7Q (p.Leu7Gln) variant of POLR1D (P0DPB6)
L7Q (p.Leu7Gln) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 13-27622003-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- CADD 25.50
- PolyPhen-2 0.80
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available