S52G (p.Ser52Gly) variant of TGFB2 (P61812)
S52G (p.Ser52Gly) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- rs771351240
- ClinGen CA1398374
- cosmic curated COSV65110
- ClinVar RCV000524041
- Uncertain significance
- not provided; Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.35
- CADD 28.80
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; 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)