S36T (p.Ser36Thr) variant of TBX5 (T-box transcription factor TBX5)
S36T (p.Ser36Thr) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- gnomAD rs1171372107
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available