Q34R (p.Gln34Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q34R (p.Gln34Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- gnomAD rs1842781405
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- MetaLR 0.14
- MetaSVM -1.02
- CADD 22.60
- SIFT 0.44
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available