Q23H (p.Gln23His) variant of SMAD3 (SMAD family member 3)
Q23H (p.Gln23His) 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.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 15-67098927-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0843
- CADD 0.52
- Population evidence available
- Structural context available
- Literature evidence available