R27S (p.Arg27Ser) variant of SMAD4 (SMAD family member 4)
R27S (p.Arg27Ser) 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.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- Ensembl rs2144400776
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Benign
- UniProt: Benign
- Structural context available