V39A (p.Val39Ala) variant of SMAD3 (SMAD family member 3)
V39A (p.Val39Ala) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- Ensembl rs2140188959
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.59
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available