T51I (p.Thr51Ile) variant of TGFB2 (P61812)
T51I (p.Thr51Ile) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs1656699420
- ClinGen CA344725404
- ClinVar RCV003038983
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)