P10H (p.Pro10His) variant of SMAD3 (SMAD family member 3)
P10H (p.Pro10His) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P10H (p.Pro10His) variant details
- p.Pro10His
- rs1439082602
- gnomAD 15-67098980-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 4.51
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available