E23Q (p.Glu23Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
E23Q (p.Glu23Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- gnomAD 10-50991445-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- MetaLR 0.39
- MetaSVM -0.45
- CADD 24.60
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available