A22P (p.Ala22Pro) variant of GNAS (P63092)
A22P (p.Ala22Pro) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- rs759833927
- gnomAD 20-58840188-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 25.20
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available