S20T (p.Ser20Thr) variant of TGFB2 (P61812)
S20T (p.Ser20Thr) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- rs1656695125
- ClinGen CA344725187
- ClinVar RCV003332010
- ClinVar RCV005103940
- Uncertain significance
- not specified; Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- CADD 23.20
- ClinVar: Uncertain significance (not specified; Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)