A9A (p.Ala9Ala) variant of PRKG1 (cGMP-dependent protein kinase 1)
A9A (p.Ala9Ala) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9A (p.Ala9Ala) variant details
- p.Ala9Ala
- gnomAD 10-50991405-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 14.30
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available