E61K (p.Glu61Lys) variant of TGFB2 (P61812)
E61K (p.Glu61Lys) 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; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs763228811
- ClinGen CA1398379
- ClinVar RCV001762808
- ClinVar RCV006616527
- Uncertain significance
- Loeys-Dietz syndrome 4; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.69
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)