K20T (p.Lys20Thr) variant of PRKG1 (cGMP-dependent protein kinase 1)
K20T (p.Lys20Thr) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K20T (p.Lys20Thr) variant details
- p.Lys20Thr
- gnomAD 10-50991437-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- MetaLR 0.13
- MetaSVM -1.02
- CADD 22.70
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available