N53K (p.Asn53Lys) variant of POLR1D (P0DPB6)
N53K (p.Asn53Lys) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- gnomAD 13-27650066-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.60
- Population evidence available
- Structural context available
- Literature evidence available