A18A (p.Ala18Ala) variant of GNAS (P63092)
A18A (p.Ala18Ala) in GNAS (P63092) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 20-58840127-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available