S3F (p.Ser3Phe) variant of SMAD3 (SMAD family member 3)
S3F (p.Ser3Phe) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- gnomAD 15-67066162-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available