L43F (p.Leu43Phe) variant of GNAS (P63092)
L43F (p.Leu43Phe) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- gnomAD 20-58840227-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available