S12I (p.Ser12Ile) variant of GNA11 (P29992)
S12I (p.Ser12Ile) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- gnomAD 19-3094686-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.51
- AlphaMissense 0.48
- MetaLR 0.70
- MetaSVM 0.50
- CADD 25.40
- PolyPhen-2 0.75
- Population evidence available
- Structural context available
- Literature evidence available