K42Q (p.Lys42Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
K42Q (p.Lys42Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- gnomAD 10-50991502-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- MetaLR 0.49
- MetaSVM -0.10
- CADD 26.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available