E16K (p.Glu16Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E16K (p.Glu16Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD 10-50991424-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- MetaLR 0.24
- MetaSVM -0.47
- CADD 25.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available