K8R (p.Lys8Arg) variant of TBX20 (T-box transcription factor TBX20)
K8R (p.Lys8Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- rs760680589
- ExAC rs760680589
- gnomAD rs760680589
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available