P10S (p.Pro10Ser) variant of SMAD3 (SMAD family member 3)
P10S (p.Pro10Ser) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs1960683495
- gnomAD 15-67098904-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 7.23
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available