A7V (p.Ala7Val) variant of GNAI1 (P63096)
A7V (p.Ala7Val) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 7-80135180-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.58
- MetaSVM -0.06
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available