V49M (p.Val49Met) variant of PRKG1 (cGMP-dependent protein kinase 1)
V49M (p.Val49Met) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- TOPMed rs1416776423
- gnomAD rs1416776423
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- MetaLR 0.14
- MetaSVM -1.02
- CADD 22.60
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available