L43M (p.Leu43Met) variant of GNAS (P63092)
L43M (p.Leu43Met) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L43M (p.Leu43Met) variant details
- p.Leu43Met
- Ensembl rs2145916985
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 23.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available