A34A (p.Ala34Ala) variant of SMAD3 (SMAD family member 3)
A34A (p.Ala34Ala) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- rs748990258
- gnomAD 15-67066256-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 12.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available