K19E (p.Lys19Glu) variant of SMAD3 (SMAD family member 3)
K19E (p.Lys19Glu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- gnomAD 15-67138081-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 8.55
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available