I26V (p.Ile26Val) variant of GNAS (P63092)
I26V (p.Ile26Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs2085662717
- gnomAD 20-58840176-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 22.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available