H41R (p.His41Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
H41R (p.His41Arg) 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, published literature, and structural context.
H41R (p.His41Arg) variant details
- p.His41Arg
- gnomAD 10-50991500-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.19
- MetaSVM -0.82
- CADD 23.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available