A19P (p.Ala19Pro) variant of TBX5 (T-box transcription factor TBX5)
A19P (p.Ala19Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- cosmic curated COSV59862
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available