Q23P (p.Gln23Pro) variant of SMAD3 (SMAD family member 3)
Q23P (p.Gln23Pro) 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.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- gnomAD 15-67098944-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.64
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available