D241E (p.Asp241Glu) variant of PTH1R (Q03431)
D241E (p.Asp241Glu) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D241E (p.Asp241Glu) variant details
- p.Asp241Glu
- rs2107040144
- ClinGen CA352496853
- ClinVar RCV002225936
- Ensembl rs2107040144
- Likely pathogenic
- Pseudohypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.98
- MetaLR 0.22
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)