H26N (p.His26Asn) variant of SMAD4 (SMAD family member 4)
H26N (p.His26Asn) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
H26N (p.His26Asn) variant details
- p.His26Asn
- Ensembl rs2144400736
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.46
- MetaSVM -0.42
- CADD 27.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available