M29V (p.Met29Val) variant of POLR1D (P0DPB6)
M29V (p.Met29Val) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- gnomAD 13-27622933-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.26
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available