S12N (p.Ser12Asn) variant of GNA11 (P29992)
S12N (p.Ser12Asn) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 19-3094686-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- AlphaMissense 0.16
- MetaLR 0.45
- MetaSVM -0.16
- CADD 23.00
- PolyPhen-2 0.24
- Population evidence available
- Structural context available
- Literature evidence available