K20N (p.Lys20Asn) variant of PRKG1 (cGMP-dependent protein kinase 1)
K20N (p.Lys20Asn) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- gnomAD 10-50991438-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- MetaLR 0.15
- MetaSVM -1.01
- CADD 17.70
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available