P26S (p.Pro26Ser) variant of TGFBR2 (TGF-beta receptor type-2)
P26S (p.Pro26Ser) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of not provided; Loeys-Dietz syndrome 2; Malignant tumor of esophagus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs764160271
- ClinGen CA049857
- cosmic curated COSV10809
- ClinVar RCV001064639
- Uncertain significance/Uncertain risk allele
- not provided; Loeys-Dietz syndrome 2; Malignant tumor of esophagus
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance/Uncertain risk allele (not provided; Loeys-Dietz syndrome 2; Malignant tumor of esophag)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)