L36V (p.Leu36Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
L36V (p.Leu36Val) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- TOPMed rs1456395762
- gnomAD rs1456395762
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- MetaLR 0.33
- MetaSVM -0.48
- CADD 23.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available