D7N (p.Asp7Asn) variant of PRKG1 (cGMP-dependent protein kinase 1)
D7N (p.Asp7Asn) 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 and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- ESP rs376397116
- ExAC rs376397116
- TOPMed rs376397116
- gnomAD rs376397116
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.21
- MetaSVM -0.77
- CADD 23.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available