A18S (p.Ala18Ser) variant of TGFB2 (P61812)
A18S (p.Ala18Ser) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs886045975
- ClinGen CA344725174
- ClinVar RCV001921010
- TOPMed rs886045975
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.41
- 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 1.8e-06)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)