N3Y (p.Asn3Tyr) variant of SMAD4 (SMAD family member 4)
N3Y (p.Asn3Tyr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N3Y (p.Asn3Tyr) variant details
- p.Asn3Tyr
- ExAC rs774342820
- gnomAD rs774342820
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available