V12A (p.Val12Ala) variant of SMAD3 (SMAD family member 3)
V12A (p.Val12Ala) 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.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- rs1425176732
- gnomAD 15-67098908-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.23
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available