L12L (p.Leu12Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
L12L (p.Leu12Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs771726791
- gnomAD 10-50991414-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 12.20
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available
- Literature evidence available