L14F (p.Leu14Phe) variant of POLR1D (P0DPB6)
L14F (p.Leu14Phe) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD 13-27622890-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available