P10T (p.Pro10Thr) variant of SMAD3 (SMAD family member 3)
P10T (p.Pro10Thr) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- gnomAD 15-67066182-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.64
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available