E21K (p.Glu21Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E21K (p.Glu21Lys) 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.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD 10-50991439-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.22
- MetaSVM -0.80
- CADD 23.70
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available