T52S (p.Thr52Ser) variant of PRKG1 (cGMP-dependent protein kinase 1)
T52S (p.Thr52Ser) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- gnomAD 10-51074598-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -0.92
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available