L40I (p.Leu40Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
L40I (p.Leu40Ile) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- gnomAD 10-50991496-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- MetaLR 0.22
- MetaSVM -0.88
- CADD 21.70
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available