L4I (p.Leu4Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
L4I (p.Leu4Ile) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 10-50991388-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.41
- MetaSVM -0.07
- CADD 25.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available