H38P (p.His38Pro) variant of POLR1D (P0DPB6)
H38P (p.His38Pro) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H38P (p.His38Pro) variant details
- p.His38Pro
- gnomAD rs1204708589
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.47
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.21
- Population evidence available
- Structural context available