H21Q (p.His21Gln) variant of SMAD4 (SMAD family member 4)
H21Q (p.His21Gln) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
H21Q (p.His21Gln) variant details
- p.His21Gln
- Ensembl rs1555685004
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.60
- CADD 23.90
- EBI: Benign
- UniProt: Benign
- Structural context available