R56C (p.Arg56Cys) variant of POLR1D (P0DPB6)
R56C (p.Arg56Cys) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs1014369151
- ClinGen CA247287196
- NCI-TCGA Cosmic COSV5725
- cosmic curated COSV57256
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.83
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in TCS2)
- UniProt: Pathogenic (in TCS2)
- Population evidence available
- Structural context available
- Cited in: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PMID 21131976)