S3P (p.Ser3Pro) variant of SMAD3 (SMAD family member 3)
S3P (p.Ser3Pro) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- ExAC rs761230207
- gnomAD rs761230207
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 29.30
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available