A79T (p.Ala79Thr) variant of TBX5 (T-box transcription factor TBX5)
A79T (p.Ala79Thr) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- cosmic curated COSV10009
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- CADD 26.50
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available