S2P (p.Ser2Pro) variant of SMAD3 (SMAD family member 3)
S2P (p.Ser2Pro) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- gnomAD 15-67066158-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.51
- CADD 24.80
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available