L55R (p.Leu55Arg) variant of POLR1D (P0DPB6)
L55R (p.Leu55Arg) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L55R (p.Leu55Arg) variant details
- p.Leu55Arg
- gnomAD 13-27623012-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.95
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available