S51L (p.Ser51Leu) variant of GNAS (P63092)
S51L (p.Ser51Leu) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- gnomAD 20-58840208-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available