T11A (p.Thr11Ala) variant of SMAD4 (SMAD family member 4)
T11A (p.Thr11Ala) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs587780791
- ClinGen CA332845
- ClinVar RCV000123262
- ClinVar RCV005055593
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)