S74R (p.Ser74Arg) variant of TBX20 (T-box transcription factor TBX20)
S74R (p.Ser74Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S74R (p.Ser74Arg) variant details
- p.Ser74Arg
- NCI-TCGA Cosmic COSV1012
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.29
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available