D4N (p.Asp4Asn) variant of POLR1D (P0DPB6)
D4N (p.Asp4Asn) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- gnomAD 13-27621993-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- CADD 26.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available