S6C (p.Ser6Cys) variant of GNAI1 (P63096)
S6C (p.Ser6Cys) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 7-80135176-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- MetaLR 0.84
- MetaSVM 0.87
- CADD 29.90
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available