E47K (p.Glu47Lys) variant of POLR1D (P0DPB6)
E47K (p.Glu47Lys) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs767196650
- ClinGen CA6927259
- ClinVar RCV000024044
- ClinVar RCV002513218
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided)
- 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)
- Cited in: Treacher Collins Syndrome. (PMID 20301704)