L45V (p.Leu45Val) variant of GNAS (P63092)
L45V (p.Leu45Val) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- gnomAD 20-58840239-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 25.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available