K226R (p.Lys226Arg) variant of TBX5 (T-box transcription factor TBX5)
K226R (p.Lys226Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
K226R (p.Lys226Arg) variant details
- p.Lys226Arg
- rs1565935426
- ClinGen CA386859822
- ClinVar RCV000782325
- Ensembl rs1565935426
- Likely pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Holt-Oram syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holt-Oram Syndrome. (PMID 20301290)