I19L (p.Ile19Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
I19L (p.Ile19Leu) 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.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- gnomAD 10-51074663-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.73
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available