V12I (p.Val12Ile) variant of SMAD3 (SMAD family member 3)
V12I (p.Val12Ile) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- rs1386430240
- gnomAD 15-67098919-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- CADD 0.56
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available