L43V (p.Leu43Val) variant of GNAS (P63092)
L43V (p.Leu43Val) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs2145916985
- ClinGen CA409449063
- ClinVar RCV001732161
- Ensembl rs2145916985
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.51
- CADD 16.30
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)