A18T (p.Ala18Thr) variant of GNAS (P63092)
A18T (p.Ala18Thr) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 20-58840125-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available