E23K (p.Glu23Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E23K (p.Glu23Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- TOPMed rs1842781107
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 22.20
- SIFT 0.05
- Most common in the South Asian population (allele frequency 6.1e-05)
- Structural context available