S90C (p.Ser90Cys) variant of GNA13 (Q14344)
S90C (p.Ser90Cys) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
S90C (p.Ser90Cys) variant details
- p.Ser90Cys
- ExAC rs768761767
- gnomAD rs768761767
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.61
- MetaLR 0.76
- MetaSVM 0.47
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1e-06)