A34P (p.Ala34Pro) variant of SMAD3 (SMAD family member 3)
A34P (p.Ala34Pro) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- rs1481516589
- gnomAD 15-67138066-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 6.74
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Literature evidence available