G52E (p.Gly52Glu) variant of POLR1D (P0DPB6)
G52E (p.Gly52Glu) in POLR1D (P0DPB6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in TCS2. The record also includes variant effect predictions, published literature, and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- UniProt VAR 064895
- Pathogenic
- in TCS2
- Missense
- MetaLR 0.94
- MetaSVM 1.04
- SIFT 0.00
- EBI: Pathogenic (in TCS2)
- UniProt: Pathogenic (in TCS2)
- Structural context available
- Cited in: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PMID 21131976)