P14S (p.Pro14Ser) variant of TBX5 (T-box transcription factor TBX5)
P14S (p.Pro14Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- ExAC rs773397553
- TOPMed rs773397553
- gnomAD rs773397553
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.59
- CADD 28.50
- PolyPhen-2 0.71
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available