Q23L (p.Gln23Leu) variant of SMAD3 (SMAD family member 3)
Q23L (p.Gln23Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- rs1263592351
- gnomAD 15-67138049-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0841
- CADD 0.49
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available