S32N (p.Ser32Asn) variant of SMAD4 (SMAD family member 4)
S32N (p.Ser32Asn) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- Ensembl rs2144400871
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- ESM-1b 0.14
- AlphaMissense 0.25
- MetaLR 0.24
- MetaSVM -0.74
- CADD 22.40
- Structural context available