L38H (p.Leu38His) variant of SMAD3 (SMAD family member 3)
L38H (p.Leu38His) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L38H (p.Leu38His) variant details
- p.Leu38His
- gnomAD 15-67098959-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available