D3N (p.Asp3Asn) variant of TBX5 (T-box transcription factor TBX5)
D3N (p.Asp3Asn) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs1565943407
- Ensembl rs1565943407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available