P75Q (p.Pro75Gln) variant of TBX20 (T-box transcription factor TBX20)
P75Q (p.Pro75Gln) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P75Q (p.Pro75Gln) variant details
- p.Pro75Gln
- rs540565352
- ClinGen CA367265223
- ClinVar RCV002428440
- ClinVar RCV005098027
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.25
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available