Q23* (p.Gln23Ter) variant of SMAD3 (SMAD family member 3)
Q23* (p.Gln23Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs2140188838
- ClinGen CA393202807
- NCI-TCGA Cosmic COSV5929
- ClinVar RCV003485905
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.28
- MetaLR 0.27
- MetaSVM -0.62
- PolyPhen-2 0.03
- SIFT 0.04
- MutPred 0.32
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)