A7S (p.Ala7Ser) variant of GNAI1 (P63096)
A7S (p.Ala7Ser) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 7-80135179-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- MetaLR 0.53
- MetaSVM -0.19
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available