L5M (p.Leu5Met) variant of GNAI1 (P63096)
L5M (p.Leu5Met) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 7-80135173-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- MetaLR 0.46
- MetaSVM -0.59
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available