S79R (p.Ser79Arg) variant of SMAD2 (SMAD family member 2)
S79R (p.Ser79Arg) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S79R (p.Ser79Arg) variant details
- p.Ser79Arg
- Ensembl rs2144384959
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available