K24N (p.Lys24Asn) variant of POLR1D (P0DPB6)
K24N (p.Lys24Asn) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- gnomAD 13-27622920-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.31
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available