G25A (p.Gly25Ala) variant of SMAD3 (SMAD family member 3)
G25A (p.Gly25Ala) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD 15-67066228-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available