T52I (p.Thr52Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
T52I (p.Thr52Ile) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- gnomAD 10-50991533-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- MetaLR 0.18
- MetaSVM -0.85
- CADD 20.40
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available