S18R (p.Ser18Arg) variant of SMAD4 (SMAD family member 4)
S18R (p.Ser18Arg) 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 1.00 / 1. The record also includes structural context.
S18R (p.Ser18Arg) variant details
- p.Ser18Arg
- gnomAD rs1599181066
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Benign
- UniProt: Benign
- Structural context available