S38P (p.Ser38Pro) variant of TBX5 (T-box transcription factor TBX5)
S38P (p.Ser38Pro) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- cosmic curated COSV59863
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.15
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available