Q44K (p.Gln44Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q44K (p.Gln44Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- gnomAD 10-51074717-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.16
- MetaLR 0.16
- MetaSVM -0.91
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available