Q44Q (p.Gln44Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q44Q (p.Gln44Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q44Q (p.Gln44Gln) variant details
- p.Gln44Gln
- gnomAD 10-50991510-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available