V39V (p.Val39Val) variant of SMAD3 (SMAD family member 3)
V39V (p.Val39Val) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V39V (p.Val39Val) variant details
- p.Val39Val
- rs1595882130
- gnomAD 15-67066271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available