P9L (p.Pro9Leu) variant of SMAD3 (SMAD family member 3)
P9L (p.Pro9Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- ExAC rs762101727
- gnomAD rs762101727
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.80
- CADD 24.10
- PolyPhen-2 0.88
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available