K19K (p.Lys19Lys) variant of SMAD3 (SMAD family member 3)
K19K (p.Lys19Lys) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K19K (p.Lys19Lys) variant details
- p.Lys19Lys
- rs867126915
- gnomAD 15-67066211-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 13.50
- Most common in the Middle Eastern population (allele frequency 0.00053)
- Structural context available
- Literature evidence available