V46M (p.Val46Met) variant of PRKG1 (cGMP-dependent protein kinase 1)
V46M (p.Val46Met) 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.
V46M (p.Val46Met) variant details
- p.Val46Met
- TOPMed rs1840857745
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.39
- MetaSVM -0.23
- CADD 25.30
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available