S36R (p.Ser36Arg) variant of TBX5 (T-box transcription factor TBX5)
S36R (p.Ser36Arg) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S36R (p.Ser36Arg) variant details
- p.Ser36Arg
- cosmic curated COSV10590
- gnomAD rs1430688195
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- CADD 24.90
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available