L39I (p.Leu39Ile) variant of GNAI1 (P63096)
L39I (p.Leu39Ile) in GNAI1 (P63096) 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.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- gnomAD 7-80135275-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- MetaLR 0.88
- MetaSVM 0.83
- CADD 23.80
- PolyPhen-2 0.38
- SIFT 0.35
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available