K8N (p.Lys8Asn) variant of TBX20 (T-box transcription factor TBX20)
K8N (p.Lys8Asn) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- ExAC rs772194085
- TOPMed rs772194085
- gnomAD rs772194085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.38
- CADD 25.10
- PolyPhen-2 0.51
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available