L55V (p.Leu55Val) variant of POLR1D (P0DPB6)
L55V (p.Leu55Val) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- rs587777841
- ClinGen CA270801
- ClinVar RCV000144520
- ClinVar RCV003319179
- Pathogenic
- Treacher Collins syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.89
- CADD 25.20
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Pathogenic (Treacher Collins syndrome 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. (PMID 24603435)
- Cited in: Treacher Collins Syndrome. (PMID 20301704)