S45A (p.Ser45Ala) variant of PRKG1 (cGMP-dependent protein kinase 1)
S45A (p.Ser45Ala) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- gnomAD rs1458818322
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- MetaLR 0.21
- MetaSVM -0.94
- CADD 23.10
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available