I37M (p.Ile37Met) variant of TGFB2 (P61812)
I37M (p.Ile37Met) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I37M (p.Ile37Met) variant details
- p.Ile37Met
- rs1440677621
- ClinGen CA344725310
- ClinVar RCV003876676
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)