L51R (p.Leu51Arg) variant of POLR1D (P0DPB6)
L51R (p.Leu51Arg) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Treacher Collins syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L51R (p.Leu51Arg) variant details
- p.Leu51Arg
- rs1593275448
- ClinGen CA387635144
- ClinVar RCV000024045
- UniProt VAR 064894
- Pathogenic
- Treacher Collins syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.83
- MutPred 0.78
- ClinVar: Pathogenic (Treacher Collins syndrome 2)
- 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)
- Cited in: Treacher Collins Syndrome. (PMID 20301704)