L46R (p.Leu46Arg) variant of GNAS (P63092)
L46R (p.Leu46Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- rs1600976255
- ClinGen CA409449096
- ClinVar RCV000850178
- ClinVar RCV005054277
- Conflicting interpretations
- Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudo
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Conflicting classifications of pathogenicity (Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)