V39I (p.Val39Ile) variant of SMAD3 (SMAD family member 3)
V39I (p.Val39Ile) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- gnomAD 15-67066269-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.39
- CADD 24.90
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available