L5P (p.Leu5Pro) variant of SMAD3 (SMAD family member 3)
L5P (p.Leu5Pro) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs964895157
- gnomAD 15-67098896-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0837
- CADD 0.43
- Most common in the Latino/Admixed American population (allele frequency 0.0022)
- Structural context available
- Literature evidence available