R61K (p.Arg61Lys) variant of TBX5 (T-box transcription factor TBX5)
R61K (p.Arg61Lys) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R61K (p.Arg61Lys) variant details
- p.Arg61Lys
- rs1386360765
- ClinGen CA386863198
- cosmic curated COSV59865
- ClinVar RCV002410516
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.29
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available