S79N (p.Ser79Asn) variant of SMAD2 (SMAD family member 2)
S79N (p.Ser79Asn) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S79N (p.Ser79Asn) variant details
- p.Ser79Asn
- gnomAD rs2033445825
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.14
- CADD 26.90
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available