S7S (p.Ser7Ser) variant of GNAS (P63092)
S7S (p.Ser7Ser) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- gnomAD 20-58840885-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available