P75L (p.Pro75Leu) variant of TBX20 (T-box transcription factor TBX20)
P75L (p.Pro75Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs540565352
- ClinGen CA4217552
- ClinVar RCV003728622
- 1000Genomes rs540565352
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.28
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available