Q12H (p.Gln12His) variant of GNAS (P63092)
Q12H (p.Gln12His) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- rs2085688169
- gnomAD 20-58840858-CCAGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 18.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available