N3D (p.Asn3Asp) variant of SMAD4 (SMAD family member 4)
N3D (p.Asn3Asp) in SMAD4 (SMAD family member 4) 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.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- cosmic curated COSV61686
- ExAC rs774342820
- gnomAD rs774342820
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.72
- MetaSVM 0.34
- CADD 23.40
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available