L5Q (p.Leu5Gln) variant of SMAD3 (SMAD family member 3)
L5Q (p.Leu5Gln) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- rs1960682939
- gnomAD 15-67098893-TCCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.32
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available