R57L (p.Arg57Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
R57L (p.Arg57Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- gnomAD 10-50991548-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- MetaLR 0.20
- MetaSVM -0.74
- CADD 24.40
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available