D48Y (p.Asp48Tyr) variant of POLR1D (P0DPB6)
D48Y (p.Asp48Tyr) in POLR1D (P0DPB6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- rs1189463043
- NCI-TCGA Cosmic COSV5725
- cosmic curated COSV57256
- gnomAD rs1189463043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available