A56S (p.Ala56Ser) variant of GNA13 (Q14344)
A56S (p.Ala56Ser) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- gnomAD rs1323009379
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- MetaLR 0.67
- MetaSVM 0.48
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.11
- Population evidence available
- Structural context available