S45L (p.Ser45Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
S45L (p.Ser45Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs1178803378
- gnomAD rs1178803378
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- MetaLR 0.22
- MetaSVM -0.91
- CADD 25.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available