K232N (p.Lys232Asn) variant of TGFBR1 (TGF-beta receptor type-1)
K232N (p.Lys232Asn) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K232N (p.Lys232Asn) variant details
- p.Lys232Asn
- rs863223811
- cosmic curated COSV66626
- Ensembl rs863223811
- ClinGen CA325117
- Likely pathogenic
- Ehlers-Danlos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.83
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome; not provided)
- EBI: Likely pathogenic (in LDS1)
- UniProt: Likely pathogenic (in LDS1)
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)