S2L (p.Ser2Leu) variant of SMAD3 (SMAD family member 3)
S2L (p.Ser2Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- gnomAD 15-67066159-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available