G17V (p.Gly17Val) variant of SMAD3 (SMAD family member 3)
G17V (p.Gly17Val) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- gnomAD 15-67098881-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 2.19
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available