M434K (p.Met434Lys) variant of TGFBR2 (TGF-beta receptor type-2)
M434K (p.Met434Lys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M434K (p.Met434Lys) variant details
- p.Met434Lys
- rs1575158954
- ClinGen CA351808961
- ClinVar RCV002251696
- ClinVar RCV005232922
- Uncertain significance
- Loeys-Dietz syndrome; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.71
- AlphaMissense 0.98
- MetaLR 0.68
- MetaSVM 0.57
- CADD 27.50
- PolyPhen-2 0.85
- ClinVar: Uncertain significance (Neoplasm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)