S32R (p.Ser32Arg) variant of SMAD4 (SMAD family member 4)
S32R (p.Ser32Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- cosmic curated COSV10967
- Ensembl rs2144400882
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available