P50L (p.Pro50Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
P50L (p.Pro50Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- gnomAD rs1166877299
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.19
- MetaSVM -0.74
- CADD 23.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available