S45S (p.Ser45Ser) variant of PRKG1 (cGMP-dependent protein kinase 1)
S45S (p.Ser45Ser) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S45S (p.Ser45Ser) variant details
- p.Ser45Ser
- rs190880830
- gnomAD 10-50991513-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available