V36F (p.Val36Phe) variant of GNAS (P63092)
V36F (p.Val36Phe) 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.
V36F (p.Val36Phe) variant details
- p.Val36Phe
- rs78536121
- gnomAD 20-58840856-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 12.50
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available