F32L (p.Phe32Leu) variant of TGFB2 (P61812)
F32L (p.Phe32Leu) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- rs779872141
- ClinGen CA1398370
- ClinVar RCV001929377
- ExAC rs779872141
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.35
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)