E6D (p.Glu6Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
E6D (p.Glu6Asp) 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.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- ExAC rs756992967
- TOPMed rs756992967
- gnomAD rs756992967
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- MetaLR 0.13
- MetaSVM -0.87
- CADD 21.60
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available