N3N (p.Asn3Asn) variant of SMAD4 (SMAD family member 4)
N3N (p.Asn3Asn) in SMAD4 (SMAD family member 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N3N (p.Asn3Asn) variant details
- p.Asn3Asn
- rs762273127
- gnomAD 18-51047055-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available