E16D (p.Glu16Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
E16D (p.Glu16Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- ExAC rs776134753
- gnomAD rs776134753
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- MetaLR 0.07
- MetaSVM -0.98
- CADD 15.80
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available