K24R (p.Lys24Arg) variant of POLR1D (P0DPB6)
K24R (p.Lys24Arg) 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.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- gnomAD 13-27622919-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available