V36A (p.Val36Ala) variant of GNAS (P63092)
V36A (p.Val36Ala) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- rs1205141340
- gnomAD 20-58840857-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 14.90
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available