Q44H (p.Gln44His) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q44H (p.Gln44His) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD 10-50991510-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- MetaLR 0.25
- MetaSVM -0.66
- CADD 24.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available