Y44S (p.Tyr44Ser) variant of GNA13 (Q14344)
Y44S (p.Tyr44Ser) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y44S (p.Tyr44Ser) variant details
- p.Tyr44Ser
- 1000Genomes rs201316886
- TOPMed rs201316886
- gnomAD rs201316886
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.53
- MetaSVM -0.26
- CADD 22.90
- PolyPhen-2 0.80
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available