A531D (p.Ala531Asp) variant of TGFBR2 (TGF-beta receptor type-2)
A531D (p.Ala531Asp) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
A531D (p.Ala531Asp) variant details
- p.Ala531Asp
- rs2125455358
- ClinGen CA351809620
- ClinVar RCV004549026
- Ensembl rs2125455358
- Likely pathogenic
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.62
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)