P48L (p.Pro48Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
P48L (p.Pro48Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- TOPMed rs1842781726
- gnomAD rs1842781726
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- MetaLR 0.27
- MetaSVM -0.63
- CADD 23.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available