L14L (p.Leu14Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
L14L (p.Leu14Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1379084523
- gnomAD 10-50991420-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available