L30Q (p.Leu30Gln) variant of GNAS (P63092)
L30Q (p.Leu30Gln) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD 20-58840187-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available