P6Q (p.Pro6Gln) variant of SMAD3 (SMAD family member 3)
P6Q (p.Pro6Gln) 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.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- gnomAD 15-67098890-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.03
- Population evidence available
- Structural context available
- Literature evidence available