L39L (p.Leu39Leu) variant of GNAI1 (P63096)
L39L (p.Leu39Leu) in GNAI1 (P63096) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L39L (p.Leu39Leu) variant details
- p.Leu39Leu
- rs372783127
- gnomAD 7-80135277-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available