L4P (p.Leu4Pro) variant of PRKG1 (cGMP-dependent protein kinase 1)
L4P (p.Leu4Pro) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD rs1025225046
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- MetaLR 0.43
- MetaSVM -0.14
- CADD 32.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available