E31V (p.Glu31Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
E31V (p.Glu31Val) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- gnomAD 10-50991470-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- MetaLR 0.19
- MetaSVM -0.92
- CADD 23.70
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available