L47F (p.Leu47Phe) variant of PRKG1 (cGMP-dependent protein kinase 1)
L47F (p.Leu47Phe) in PRKG1 (cGMP-dependent protein kinase 1) is a missense 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.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- gnomAD 10-50991517-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- MetaLR 0.14
- MetaSVM -1.00
- CADD 19.70
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available