A34S (p.Ala34Ser) variant of SMAD3 (SMAD family member 3)
A34S (p.Ala34Ser) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- rs1961711021
- gnomAD 15-67138060-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 3.36
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available