V40M (p.Val40Met) variant of POLR1D (P0DPB6)
V40M (p.Val40Met) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- gnomAD 13-27622966-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.56
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available