V36L (p.Val36Leu) variant of GNAS (P63092)
V36L (p.Val36Leu) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- TOPMed rs1160685190
- gnomAD rs1160685190
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.23
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available