L282R (p.Leu282Arg) variant of GNAS (P63092)
L282R (p.Leu282Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L282R (p.Leu282Arg) variant details
- p.Leu282Arg
- rs2146289554
- ClinGen CA409452911
- ClinVar RCV002272602
- Ensembl rs2146289554
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)