Q49K (p.Gln49Lys) variant of TBX5 (T-box transcription factor TBX5)
Q49K (p.Gln49Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- rs104894383
- ClinGen CA254302
- ClinVar RCV000008461
- UniProt VAR 015381
- Pathogenic
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.51
- CADD 27.50
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Pathogenic (Holt-Oram syndrome)
- EBI: Pathogenic (in HOS)
- UniProt: Pathogenic (in HOS)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PMID 10842287)
- Cited in: Holt-Oram Syndrome. (PMID 20301290)