L30I (p.Leu30Ile) variant of GNAS (P63092)
L30I (p.Leu30Ile) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 20-58840200-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 23.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available