H21D (p.His21Asp) variant of SMAD4 (SMAD family member 4)
H21D (p.His21Asp) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
H21D (p.His21Asp) variant details
- p.His21Asp
- Ensembl rs2144400625
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM -0.09
- CADD 28.10
- Structural context available