L14I (p.Leu14Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
L14I (p.Leu14Ile) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 10-50991418-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- MetaLR 0.22
- MetaSVM -0.86
- CADD 21.80
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available