E35K (p.Glu35Lys) variant of PTH1R (Q03431)
E35K (p.Glu35Lys) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Eiken syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs1559532562
- ClinGen CA352490852
- ClinVar RCV000714279
- Ensembl rs1559532562
- Uncertain significance
- Eiken syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.79
- MetaLR 0.26
- MetaSVM -0.51
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.53
- ClinVar: Uncertain significance (Eiken syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Report of second case and clinical and molecular characterization of Eiken syndrome. (PMID 29987841)