H21N (p.His21Asn) variant of SMAD4 (SMAD family member 4)
H21N (p.His21Asn) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
H21N (p.His21Asn) variant details
- p.His21Asn
- Ensembl rs2144400625
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM -0.02
- CADD 26.20
- Structural context available