L7M (p.Leu7Met) variant of POLR1D (P0DPB6)
L7M (p.Leu7Met) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 13-27622002-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.80
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available