A9V (p.Ala9Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
A9V (p.Ala9Val) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- Ensembl rs1681566712
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- MetaLR 0.38
- MetaSVM -0.37
- CADD 24.80
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available