T303R (p.Thr303Arg) variant of SMAD2 (SMAD family member 2)
T303R (p.Thr303Arg) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
T303R (p.Thr303Arg) variant details
- p.Thr303Arg
- rs2144300077
- ClinGen CA402504429
- cosmic curated COSV50993
- ClinVar RCV002249173
- Likely pathogenic
- Loeys-Dietz syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)